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Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

【机译】：Orphanet杂志罕见病

ISSN：-
出版周期：
语言：English

起始发布年份：2006
出版者：[London] : BioMed Central, 2006-
出版地：England

数据库引入：PubMed: v1n1, Mar. 1, 2006-, PMC

MeSH词表主题词：Orphan Drug Production; Rare Diseases*

备注：Title from PDF caption (publisher's Web site, viewed Mar. 17, 2006). Latest issue展开▼

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2020
- Volume 15 2020
2019
- Volume 14 2019
2018
2017
- Volume 12 2017
- Volume 12(Suppl 1) 2017
2016
- Volume 11 2016
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2015
2014
- Volume 9 2014
- Volume 9(Suppl 1) 2014
2013
- Volume 8 2013
2012
2011
- Volume 6 2011
2010
- Volume 5(Suppl 1) 2010
- Volume 5 2010
2009
- Volume 4 2009
2008
- Volume 3 2008
2007
- Volume 2 2007
2006
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1.RPE65

机译：RPE65.
- 作者：Andrea Sodi;Sandro Banfi;Francesco Testa;Michele Della Corte;Ilaria Passerini;Elisabetta Pelo;Settimio Rossi;Francesca Simonelli
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Gene therapy;
- Inherited retinal diseases;
2.Analysis of copy number variations of

机译：拷贝数变异分析
- 作者：Ying Zhu;Ruyi Wang;Yun Cheng;Yang Han;Tengyan Li;Yunxia Cao;Binbin Wang
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Copy number variations;
3.Maternal bile acid profile and subtype analysis of intrahepatic cholestasis of pregnancy

机译：孕产妇胆汁酸谱和怀孕肝内胆汁淤积症的亚型分析
- 作者：Yong Shao;Siyu Chen;Huan Li;Qin Tang;Di Xu
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Intrahepatic cholestasis of pregnancy;
- Bile acid profile;
- Jaundice;
- Perinatal outcome;
4.Sirolimus in the treatment of kaposiform lymphangiomatosis

机译：西罗莫司在治疗Kaposiform淋巴管症
- 作者：Jiangyuan Zhou;Kaiying Yang;Siyuan Chen;Yi Ji
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Vascular anomaly;
- Lymphatic malformation;
- Kaposiform lymphangiomatosis;
- Sirolimus;
- Mammalian target of rapamycin;
5.Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

机译：由于家庭/个人历史中的病理信息丢失或错误延迟培训 - 杰基综合征
- 作者：Yu-Liang Jiang;Xiao-Dong Xu;Bai-Rong Li;En-Da Yu;Zi-Ye Zhao;Hong Liu
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Peutz–Jeghers syndrome;
6.Demographics in-hospital analysis and prevalence of 33 rare diseases with effective treatment in Shanghai

机译：人口统计学医院分析33例罕见疾病的患病率在上海有效待遇
- 作者：Xiaoshu Cai;Georgi Z. Genchev;Ping He;Hui Lu;Guangjun Yu
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Rare disease;
- Orphan disease;
- Health care policy;
- Shanghai;
- China;
- Epidemiology;
- Rare disease prevalence;
7.Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults

机译：Barth综合征症状评估（BTHS-SA）对青少年和成人的开发和内容有效性
- 作者：Chad Gwaltney;Jonathan Stokes;Anthony Aiudi;Iyar Mazar;Sarah Ollis;Emily Love;Alan Shields
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Content validity;
- Instrument development;
- Patient-reported outcomes;
- Barth Syndrome;
- Barth Syndrome Symptom Assessment;
8.Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic neurologic and pediatric-onset diseases

机译：使用四十年的FDA孤儿药物指标来描述稀有疾病药物发展的趋势：在稀有肿瘤神经系统和儿科发病疾病的毒药的发展中看到的大量增长
- 作者：Kathleen L. Miller;Lewis J. Fermaglich;Janet Maynard
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Oncology;
- Orphan drugs;
- Orphan Drug Act;
- Orphan drug designation;
- Pediatric;
- Rare disease;
- US Food and Drug Administration;
9.Val50Met hereditary transthyretin amyloidosis: not just a medical problem but a psychosocial burden

机译：Val50met遗传性Transthyretin淀粉样蛋白症：不仅仅是一种医学问题而且是一种心理社会负担
- 作者：Juan González-Moreno;Aina Gaya-Barroso;Inés Losada-López;Adrián Rodríguez;Teresa Bosch-Rovira;Tomás Ripoll-Vera;Mercedes Usón;Antoni Figuerola;Cristina Descals;Carles Montalà;María Asunción Ferrer-Nadal;Eugenia Cisneros-Barroso
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Hereditary transthyretin amyloidosis;
- Burden of disease;
- Rare disease;
- Well-being;
- Caregivers;
10.Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature

机译：不寻常的骨骼受累植物植物细胞组织细胞症：对文献的系统审查
- 作者：Nahid Reisi;Pouran Raeissi;Touraj Harati Khalilabad;Alireza Moafi
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Langerhans cell histiocytosis;
- LCH disease;
- Bone lesion;
- Rare disease;
- Children;
- Adults;
- Systematic review;
11.Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines

机译：支持与表皮渗漏的人的性行为：临床实践指南
- 作者：Alex King;Humphrey Hanley;Mark Popenhagen;Florencia Perez;Kerry Thompson;Diana Purvis;Nora Garcia;Ida Steinlein;Mia Werkentoft;Matthew Lightfoot;Michelle Lahat;Kalsoom Begum;Julio Tanabe
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Epidermolysis bullosa;
- Sexuality;
- Intimacy;
- Sexual health;
- Sex;
- Puberty;
12.Bone fragility in patients affected by congenital diseases non skeletal in origin

机译：由先天性疾病影响的患者骨脆性原产地
- 作者：L. Masi;S. Ferrari;M. K. Javaid;S. Papapoulos;D. D. Pierroz;M. L. Brandi
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Bone metabolism;
- Genetic bone diseases;
- Metabolic bone diseases;
- Taxonomy;
- Non-skeletal rare congenital disorders;
13.Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review

机译：遗传性裂纹症和肾细胞癌：案例系列与文献综述
- 作者：Zahraa Chayed;Lone Krøldrup Kristensen;Lilian Bomme Ousager;Karina Rønlund;Anette Bygum
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Hereditary leiomyomatosis and renal cell carcinoma;
- HLRCC;
- Surveillance program;
14.Pancreatic involvement in patients with inborn errors of metabolism

机译：胰腺涉及原始新陈代谢误差的患者
- 作者：Woo Jin Hwang;Han Hyuk Lim;Yoo-Mi Kim;Mea Young Chang;Hong Ryang Kil;Jae Young Kim;Wung Joo Song;Harvey L. Levy;Sook-Za Kim
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
15.Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments

机译：脊髓肌萎缩和经济评估经济负担的系统文献综述
- 作者：Tamara Dangouloff;Camille Botty;Charlotte Beaudart;Laurent Servais;Mickaël Hiligsmann
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Burden;
- Cost;
- Cost-effectiveness;
- Economic;
- ICER;
- Nusinersen;
- Spinal muscular atrophy;
- Onasemnogene abeparvovec;
16.Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines

机译：对PseudomyXoma Peritonei的共识和争议：对已发表的共识声明和指导方针进行审查
- 作者：Yu-Lin Lin;Da-Zhao Xu;Xin-Bao Li;Feng-Cai Yan;Hong-Bin Xu;Zheng Peng;Yan Li
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
17.Dalfampridine in the treatment of multiple sclerosis: a meta-analysis of randomised controlled trials

机译：Dalfampridine在治疗多发性硬化症中：随机对照试验的荟萃分析
- 作者：Enyao Zhang;Xin Tian;Ruoming Li;Chaoyang Chen;Min Li;Lingyun Ma;Ran Wei;Ying Zhou;Yimin Cui
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Multiple sclerosis;
- Dalfampridine;
- Meta-analysis;
18.A comprehensive review of hydroxyurea for β-haemoglobinopathies: the role revisited during COVID-19 pandemic

机译：对β-血红蛋白的羟基脲综合评论：Covid-19流行病中重新审查的作用
- 作者：Nirmani Yasara;Anuja Premawardhena;Sachith Mettananda
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Hydroxyurea;
- Thalassaemia;
- Sickle cell disease;
- Haemoglobinopathies;
- γ-Globin induction;
- Blood transfusion;
- Ribonucleoside diphosphate reductase;
- COVID-19;
19.Facioscapulohumeral muscular dystrophy: genetics gene activation and downstream signalling with regard to recent therapeutic approaches: an update

机译：面部肌肉营养不良：关于最近治疗方法的遗传学基因激活和下游信号：更新
- 作者：Teresa Schätzl;Lars Kaiser;Hans-Peter Deigner
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Facioscapulohumeral muscular dystrophy (FSHD);
- Double Homeobox 4 (;
20.Hydroxyurea and blood transfusion therapy for Sickle cell disease in South Asia: inconsistent treatment of a neglected disease

机译：南亚镰状细胞病的羟基脲和输血治疗：对被忽视疾病的治疗不一致
- 作者：Thamal Darshana;David Rees;Anuja Premawardhena
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Sickle cell;
- South Asia;
- Hydroxyurea;
- Blood transfusion;
21.New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy

机译：用于治疗溶酶体储存疾病的新范式：靶向Endocannabinoid系统作为治疗策略
- 作者：Edward H. Schuchman;Maria D. Ledesma;Calogera M. Simonaro
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Lysosomal storage diseases;
- Endocannabinoids;
- Treatment;
22.A framework for the evaluation of patients with congenital facial weakness

机译：先天性面部弱点评估患者的框架
- 作者：Bryn D. Webb;Irini Manoli;Elizabeth C. Engle;Ethylin W. Jabs
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Congenital facial weakness;
- Facial paralysis;
- Clinical genetics;
- Clinical characterization;
23.Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

机译：Currarino综合征：综合遗传述评罕见的先天性障碍
- 作者：Gabriel C. Dworschak;Heiko M. Reutter;Michael Ludwig
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Anorectal malformation;
- Constipation;
- Currarino syndrome;
24.Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app

机译：可治疗的遗传性代谢障碍造成知识分子障碍：2021年审查和数字应用程序
- 作者：Eva M. M. Hoytema van Konijnenburg;Saskia B. Wortmann;Marina J. Koelewijn;Laura A. Tseng;Roderick Houben;Sylvia Stöckler-Ipsiroglu;Carlos R. Ferreira;Clara D. M. van Karnebeek
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Inborn error of metabolism;
- Metabolic disorders;
- Management;
- Therapy;
- Epilepsy;
- Intellectual developmental disorders;
- Diet;
- Pharmacological;
- Nutraceutical;
- Diagnostic;
- Outcomes;
- Evidence;
25.Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization Ketotic Hypoglycemia International

机译：提高对特发性杀菌性低血糖症的理解：患者组织的文献综述和引入酮症低血糖国际
- 作者：Danielle Drachmann;Erica Hoffmann;Austin Carrigg;Beccie Davis-Yates;Valerie Weaver;Paul Thornton;David A. Weinstein;Jacob S. Petersen;Pratik Shah;Henrik Thybo Christesen
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Idiopathic ketotic hypoglycemia;
- Children;
- Glycogen storage disease;
- Rare disease;
- Ketone bodies;
- Hypoglycemia;
26.A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

机译：隐性营养不良表皮分解患者疾病负担的系统文献综述
- 作者：Jean Yuh Tang;M. Peter Marinkovich;Eleanor Lucas;Emily Gorell;Albert Chiou;Ying Lu;Jodie Gillon;Dipen Patel;Dan Rudin
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Recessive dystrophic epidermolysis bullosa;
- Burden of disease;
- Systematic literature review;
27.Cost-of-illness studies in rare diseases: a scoping review

机译：罕见疾病中疾病成本研究：审查综述
- 作者：Lidia García-Pérez;Renata Linertová;Cristina Valcárcel-Nazco;Manuel Posada;Inigo Gorostiza;Pedro Serrano-Aguilar
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Cost-of-illness;
- Economic burden;
- Rare diseases;
- Scoping review;
28.Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

机译：马赛克神经纤维瘤患者1型患者的临床特征和疾病严重程度：单中心研究与文献综述
- 作者：C. Ejerskov;M. Raundahl;P. A. Gregersen;M. M. Handrup
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Neurofibromatosis type 1;
- Neurofibroma;
- Plexiform neurofibroma;
- Mosaicism;
- Mosaic;
29.The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases

机译：多域响应者指数：一种新型分析工具用于在异质复杂稀有疾病中捕获对临床益处的更广泛评估
- 作者：P. K. Tandon;Emil D. Kakkis
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Multi-domain responder index;
- MDRI;
- Mucopolysaccharidosis;
- MPS;
- Laronidase;
- Vestronidase alfa;
30.A systematic review of case reports of hepatic actinomycosis

机译：对肝放射腺炎病例报告的系统审查
- 作者：Zahra Chegini;Mojtaba Didehdar;Seidamir Pasha Tabaeian;Amin Khoshbayan;Aref Shariati
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Actinomycosis;
- Liver abscess;
- Hepatic actinomycosis;
31.Calcium channelopathies and intellectual disability: a systematic review

机译：钙通道和智力残疾：系统评价
- 作者：Miriam Kessi;Baiyu Chen;Jing Peng;Fangling Yan;Lifen Yang;Fei Yin
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Intellectual disability;
- Global developmental delay;
- Epilepsy;
- Calcium channelopathies;
- Genes;
- Variants;
- Cerebellar atrophy;
- Review;
32.Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy

机译：解剖过期性在视网膜变性中的作用：临床和分子方面及其对未来治疗的影响
- 作者：Ana B. Garcia-Delgado;Lourdes Valdes-Sanchez;Maria Jose Morillo-Sanchez;Beatriz Ponte-Zuñiga;Francisco J. Diaz-Corrales;Berta de la Cerda
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Retinal dystrophy;
33.The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

机译：皮质类固醇治疗时代的Duchenne肌营养不良的临床进程：系统文献综述
- 作者：Shelagh M. Szabo;Renna M. Salhany;Alison Deighton;Meagan Harwood;Jean Mah;Katherine L. Gooch
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Duchenne muscular dystrophy;
- DMD;
- Clinical course;
- Loss of ambulation;
- Systematic review;
34.Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification—a literature review

机译：马法综合征严重心血管受累的潜在预测因子：基因型 - 表型相关性在提高风险分层时的强调作用 - 文献综述
- 作者：Roland Stengl;Bence Ágg;Miklós Pólos;Gábor Mátyás;Gábor Szabó;Béla Merkely;Tamás Radovits;Zoltán Szabolcs;Kálmán Benke
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Marfan syndrome;
- Genotype–phenotype correlations;
- Predictors;
- Prophylactic surgery;
35.Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review

机译：流行病学和进步家族性肝内胆汁淤积的负担：系统审查
- 作者：Tracey Jones-Hughes;Jo Campbell;Louise Crathorne
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2021年第-1期
- Pruritus;
- Bile acid;
36.Pathologic substrate of gastropathy in Anderson-Fabry disease

机译：安德森 - 法布里病的胃病病理基质
- 作者：Alessandro Di Toro;Nupoor Narula;Lorenzo Giuliani;Monica Concardi;Alexandra Smirnova;Valentina Favalli;Mario Urtis;Costanza Alvisi;Elena Antoniazzi;Eloisa Arbustini
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
37.Neurofibromatosis I and multiple sclerosis

机译：神经纤维瘤病I和多发性硬化症
- 作者：Christina Bergqvist;François Hemery;Salah Ferkal;Pierre Wolkenstein
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
38.Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do this is the question!

机译：筛查法布里疾病在未知的原产地轴突症状：要做或不做这是问题！
- 作者：Eugenia Rota;Marina Grandis;Alessia Di Sapio;Elisabetta Ghiglione;Pietro Fiorentino;Alessandra Repetto;Claudia Giliberto;Chiara Gemelli;Nicola Morelli;Angelo Schenone;Dario Cocito
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
39.European principles of inhibitor management in patients with haemophilia: implications of new treatment options

机译：血友病患者的欧洲抑制剂管理原理：新治疗方案的含义
- 作者：C. Hermans;P. L. F. Giangrande;B. O’Mahony;P. de Kleijn;M. Bedford;A. Batorova;J. Blatný;K. Jansone;J. Astermark;M. Crato;R. d’Oiron;A. Dougall;K. Fijnvandraat;S. Grønhaug;V. Jiménez-Yuste;M. Jokić;S. Lobet;B. Nolan;F. Peyvandi;A. Ryan
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
40.Benefits of pulmonary rehabilitation in patients with advanced lymphangioleiomyomatosis (LAM) compared with COPD – a retrospective analysis

机译：与COPD相比先进淋巴管霉素症（LAM）患者肺康复的益处 - 回顾性分析
- 作者：Rainer Gloeckl;Christoph Nell;Tessa Schneeberger;Inga Jarosch;Martina Boensch;Henrik Watz;Hubert Wirtz;Tobias Welte;Klaus Kenn;Andreas Rembert Koczulla
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
41.The forgotten people with thalassemia in the time of COVID-19: South Asian perspective

机译：在Covid-19的时候被遗忘的人在Covid-19：南亚观点
- 作者：Mohammad Sorowar Hossain;Enayetur Raheem;Mahbubul H. Siddiqee
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
42.Safety of vaccines administration in hereditary fructose intolerance

机译：遗传性果糖不耐受疫苗管理的安全性
- 作者：Arianna Maiorana;Antonella Sabia;Tiziana Corsetti;Carlo Dionisi-Vici
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
43.SARS-CoV-2 infection in a patient with propionic acidemia

机译：SARS-COV-2患者患有丙醇酸血症的患者感染
- 作者：Anna Caciotti;Elena Procopio;Francesca Pochiero;Silvia Falliano;Giuseppe Indolfi;Maria Alice Donati;Lorenzo Ferri;Renzo Guerrini;Amelia Morrone
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
44.Topical ropivacaine for analgesia of aplasia cutis congenita in newborns with hereditary epidermolysis bullosa

机译：局部罗比卡盖用于孕遗传性表皮细胞的新生儿患者的镇痛
- 作者：A. Chambelland;C. Devos;F. Casagrande;C. Chiaverini
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
45.The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

机译：Covid-19对罕见代谢患者和医疗保健提供者的影响：两个Metabern调查结果
- 作者：C. Lampe;C. Dionisi-Vici;C. M. Bellettato;L. Paneghetti;C. van Lingen;S. Bond;C. Brown;A. Finglas;R. Francisco;S. Sestini;J. M. Heard;M. Scarpa
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
46.Diagnostic testing for SARS-CoV-2 infection in HHT patients: nasopharyngeal versus oropharyngeal swab

机译：HHT患者SARS-COV-2感染的诊断检测：鼻咽与口咽拭子
- 作者：Fabio Pagella;Roberta Lizzio;Sara Ugolini;Giuseppe Spinozzi;Eugenia Maiorano;Patrizia Suppressa;Carlo Sabbà;Elina Matti
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
47.The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States

机译：SMA临床试验准备计划：创建和评估一个计划以提高美国的SMA审判准备
- 作者：Ilse Peterson;Rosángel Cruz;Fatou Sarr;Ann Marie Stanley;Jill Jarecki
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
48.ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

机译：ERNICAIG HIRSCHSPRUNG病的管理指南
- 作者：Kristiina Kyrklund;Cornelius E. J. Sloots;Ivo de Blaauw;Kristin Bjørnland;Udo Rolle;Duccio Cavalieri;Paola Francalanci;Fabio Fusaro;Annette Lemli;Nicole Schwarzer;Francesco Fascetti-Leon;Nikhil Thapar;Lars Søndergaard Johansen;Dominique Berrebi;Jean-Pierre Hugot;Célia Crétolle;Alice S. Brooks;Robert M. Hofstra;Tomas Wester;Mikko P. Pakarinen
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
49.European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

机译：欧洲参考网络用于罕见血管疾病（VASCERNE）脑筛查成人和遗传性出血性毛细血管直学患者脑筛查的立场声明（HHT）
- 作者：Omer F. Eker;Edoardo Boccardi;Ulrich Sure;Maneesh C. Patel;Saverio Alicante;Ali Alsafi;Nicola Coote;Freya Droege;Olivier Dupuis;Annette Dam Fialla;Bryony Jones;Ujwal Kariholu;Anette D. Kjeldsen;David Lefroy;Gennaro M. Lenato;Hans Jurgen Mager;Guido Manfredi;Troels H. Nielsen;Fabio Pagella;Marco C. Post;Catherine Rennie;Carlo Sabbà;Patrizia Suppressa;Pernille M. Toerring;Sara Ugolini;Elisabetta Buscarini;Sophie Dupuis-Girod;Claire L. Shovlin
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
50.Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

机译：在Covid-19大流行期间向罕见骨病的患者远程提供高质量的护理
- 作者：E. Brizola;G. Adami;G. I. Baroncelli;M. F. Bedeschi;P. Berardi;S. Boero;M. L. Brandi;L. Casareto;E. Castagnola;P. Fraschini;D. Gatti;S. Giannini;M. V. Gonfiantini;V. Landoni;A. Magrelli;G. Mantovani;M. B. Michelis;L. A. Nasto;L. Panzeri;E. Pianigiani;A. Scopinaro;L. Trespidi;A. Vianello;G. Zampino;L. Sangiorgi
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
51.Registries for orphan drugs: generating evidence or marketing tools?

机译：孤儿药物的注册管理机构：发行证据或营销工具？
- 作者：Carla E. M. Hollak;Sandra Sirrs;Sibren van den Berg;Vincent van der Wel;Mirjam Langeveld;Hanka Dekker;Robin Lachmann;Saco J. de Visser
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
52.Consensus clinical management guidelines for Alström syndrome

机译：Alström综合征的共识临床管理指南
- 作者：Natascia Tahani;Pietro Maffei;Hélène Dollfus;Richard Paisey;Diana Valverde;Gabriella Milan;Joan C. Han;Francesca Favaretto;Shyam C. Madathil;Charlotte Dawson;Matthew J. Armstrong;Adrian T. Warfield;Selma Düzenli;Clair A. Francomano;Meral Gunay-Aygun;Francesca Dassie;Vincent Marion;Marina Valenti;Kerry Leeson-Beevers;Ann Chivers;Richard Steeds;Timothy Barrett;Tarekegn Geberhiwot
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
53.Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices literature review and consensus agreement

机译：在史蒂文森综合征和有毒表皮症的急性期急性阶段管理：法国国家审计文学审查和协商一致意见
- 作者：D. Thorel;S. Ingen-Housz-Oro;G. Royer;A. Delcampe;N. Bellon;C. Bodemer;A. Welfringer-Morin;D. Bremond-Gignac;M. P. Robert;M. Tauber;F. Malecaze;O. Dereure;V. Daien;A. Colin;C. Bernier;C. Couret;B. Vabres;F. Tetart;B. Milpied;T. Cornut;B. Ben Said;C. Burillon;N. Cordel;L. Beral;N. de Prost;P. Wolkenstein;M. Muraine;J. Gueudry
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
54.Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?

机译：帕金森病患者帕金森病：患者及其亲属的咨询和管理发生了什么变化？
- 作者：Maja Di Rocco;Alessio Di Fonzo;Antonio Barbato;Maria Domenica Cappellini;Francesca Carubbi;Fiorina Giona;Gaetano Giuffrida;Silvia Linari;Andrea Pession;Antonella Quarta;Maurizio Scarpa;Marco Spada;Pietro Strisciuglio;Generoso Andria
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
55.European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG): a feasibility study

机译：欧洲专家网络稀有传染病和其他罕见的疾病与流动性和全球化有关专注于医疗保健课程（Euradmog）：可行性研究
- 作者：Ana Requena-Méndez;Zeno Bisoffi;Joan-Lluis Vives-Corrons;Joaquim Gascon;Antoni Plasència
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
56.Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

机译：在有效疗法时代遗传性Transthyretin淀粉样蛋白腺苷病出现前症状遗传学检测的建议：多中心的意大利共识
- 作者：M. Grandis;L. Obici;M. Luigetti;C. Briani;F. Benedicenti;G. Bisogni;M. Canepa;F. Cappelli;C. Danesino;G. M. Fabrizi;S. Fenu;G. Ferrandes;C. Gemelli;F. Manganelli;A. Mazzeo;L. Melchiorri;F. Perfetto;L. G. Pradotto;P. Rimessi;G. Tini;S. Tozza;L. Trevisan;D. Pareyson;P. Mandich
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
57.Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

机译：中国囊性纤维化患者临床和遗传谱的特征
- 作者：Keqiang Liu;Wenshuai Xu;Meng Xiao;Xinyue Zhao;Chun Bian;Qianli Zhang;Jiaxing Song;Keqi Chen;Xinlun Tian;Yaping Liu;Kai-Feng Xu;Xue Zhang
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
58.Mowat-Wilson syndrome: growth charts

机译：Mowat-Wilson综合症：增长图表
- 作者：Ivan Ivanovski;Olivera Djuric;Serena Broccoli;Stefano Giuseppe Caraffi;Patrizia Accorsi;Margaret P. Adam;Kristina Avela;Magdalena Badura-Stronka;Allan Bayat;Jill Clayton-Smith;Isabella Cocco;Duccio Maria Cordelli;Goran Cuturilo;Veronica Di Pisa;Juliette Dupont Garcia;Roberto Gastaldi;Lucio Giordano;Andrea Guala;Christina Hoei-Hansen;Mie Inaba;Alessandro Iodice;Jens Erik Klint Nielsen;Vladimir Kuburovic;Brissia Lazalde-Medina;Baris Malbora;Seiji Mizuno;Oana Moldovan;Rikke S. Møller;Petra Muschke;Valeria Otelli;Chiara Pantaleoni;Carmelo Piscopo;Maria Luisa Poch-Olive;Igor Prpic;Purificación Marín Reina;Federico Raviglione;Emilia Ricci;Emanuela Scarano;Graziella Simonte;Robert Smigiel;George Tanteles;Luigi Tarani;Aurelien Trimouille;Elvis Terci Valera;Samantha Schrier Vergano;Karin Writzl;Bert Callewaert;Salvatore Savasta;Maria Elisabeth Street;Lorenzo Iughetti;Sergio Bernasconi;Paolo Giorgi Rossi;Livia Garavelli
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
59.Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference

机译：将每个人带到桌面上 - 从2018年Phelan-McDermid综合征基金会的调查结果
- 作者：Kimberly Goodspeed;Geraldine Bliss;Diane Linnehan
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
60.Surgical treatment strategies for extra-pelvic intravenous leiomyomatosis

机译：外科静脉静脉内肌瘤病的外科治疗策略
- 作者：Hua Li;Jing Xu;Qiaowei Lin;Yong Zhang;Yun Zhao;Hanxing Tong;Ruiqin Tu;Demin Xu;Chunsheng Wang;Weiqi Lu
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
61.Factors influencing in-hospital death for pediatric patients with isolated methylmalonic acidemia: a nationwide inpatient database analysis

机译：分离甲基喹硫代血症儿科患者医院死亡的因素：全国性住院性数据库分析
- 作者：Yi-Zhou Jiang;Yu Shi;Ying Shi;Lan-Xia Gan;Yuan-Yuan Kong;Li-Ying Sun;Hai-Bo Wang;Zhi-Jun Zhu
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
62.Novel MNX1 mutations and genotype–phenotype analysis of patients with Currarino syndrome

机译：Currarino综合征患者的新型MNX1突变和基因型 - 表型分析
- 作者：Lu Han;Zhen Zhang;Hui Wang;Hui Song;Qing Gao;Yuchun Yan;Ran Tao;Ping Xiao;Long Li;Qian Jiang;Qi Li
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
63.Efficacy and tolerability of the investigational topical cream SD-101 (6 allantoin) in patients with epidermolysis bullosa: a phase 3 randomized double-blind vehicle-controlled trial (ESSENCE study)

机译：研究表皮溶解患者的研究局部乳霜SD-101（6％含有含量素）的疗效和耐受性：第3期随机双盲车辆对照试验（精华研究）
- 作者：Amy S. Paller;John Browning;Milos Nikolic;Christine Bodemer;Dedee F. Murrell;Willistine Lenon;Eva Krusinska;Allen Reha;Hjalmar Lagast;Jay A. Barth
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
64.Best practice guidelines for management of spinal disorders in skeletal dysplasia

机译：骨骼发育不良脊柱障碍管理的最佳实践指南
- 作者：Klane K. White;Michael B. Bober;Tae-Joon Cho;Michael J. Goldberg;Julie Hoover-Fong;Melita Irving;Shawn E. Kamps;William G. Mackenzie;Cathleen Raggio;Samantha A. Spencer;Viviana Bompadre;Ravi Savarirayan
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
65.Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia

机译：纵向血液恢复在具有超胰岛素血症低血基血症的儿童群体
- 作者：Chris Worth;Laila Al Hashmi;Daphne Yau;Maria Salomon-Estebanez;Diego Perez Ruiz;Caroline Hall;Elaine O’Shea;Helen Stokes;Peter Foster;Sarah E. Flanagan;Karen E Cosgrove;Mark J Dunne;Indraneel Banerjee
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
66.Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition

机译：三年患有Prader-Willi综合征的年轻成年人的生长激素治疗：对身体组成的持续积极作用
- 作者：Layla Damen;Stephany H. Donze;Renske J. Kuppens;Nienke E. Bakker;Laura C. G. de Graaff;Janielle A. E. M. van der Velden;Anita C. S. Hokken-Koelega
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
67.Needs assessment study of rare diseases education for nurses and nursing students in Poland

机译：温泉稀土教育需求评估研究
- 作者：Dariusz Walkowiak;Jan Domaradzki
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
68.Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

机译：遗传性出血性毛细血管疾病的眼病变：遗传学和临床特征
- 作者：Inés Gómez-Acebo;Sara Rodríguez Prado;Ángel De La Mora;Roberto Zarrabeitia Puente;Beatriz de la Roza Varela;Trinidad Dierssen-Sotos;Javier Llorca
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
69.Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

机译：日本肝癌线粒体DNA消耗综合征的临床和分子基础：肝移植后结果评估
- 作者：Masaru Shimura;Naomi Kuranobu;Minako Ogawa-Tominaga;Nana Akiyama;Yohei Sugiyama;Tomohiro Ebihara;Takuya Fushimi;Keiko Ichimoto;Ayako Matsunaga;Tomoko Tsuruoka;Yoshihito Kishita;Shuichiro Umetsu;Ayano Inui;Tomoo Fujisawa;Ken Tanikawa;Reiko Ito;Akinari Fukuda;Jun Murakami;Shunsaku Kaji;Mureo Kasahara;Kazuo Shiraki;Akira Ohtake;Yasushi Okazaki;Kei Murayama
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
70.High content drug screening for Fanconi anemia therapeutics

机译：育种贫血治疗剂的高含量药物筛选
- 作者：Helena Montanuy;Cristina Camps-Fajol;Jordi Carreras-Puigvert;Maria Häggblad;Bo Lundgren;Miriam Aza-Carmona;Thomas Helleday;Jordi Minguillón;Jordi Surrallés
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
71.The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international observational study

机译：国际X-Linked HypophosataMia（XLH）登记处（NCT03193476）：国际观察研究的理由和描述
- 作者：Raja Padidela;Ola Nilsson;Outi Makitie;Signe Beck-Nielsen;Gema Ariceta;Dirk Schnabel;Maria Luisa Brandi;Annemieke Boot;Elena Levtchenko;Michael Smyth;Ravi Jandhyala;Zulf Mughal
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
72.The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson’s disease

机译：巨噬细胞活化标记可溶性CD163升高并与威尔逊疾病患者的肝病表型相关
- 作者：Emilie Glavind;Daniel N. Gotthardt;Jan Pfeiffenberger;Thomas Damgaard Sandahl;Teodora Bashlekova;Gro Linno Willemoe;Jane Preuss Hasselby;Karl Heinz Weiss;Holger Jon Møller;Hendrik Vilstrup;William M. Lee;Michael L. Schilsky;Peter Ott;Henning Grønbæk
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
73.Inhaled granulocyte-macrophage colony stimulating factor for mild-to-moderate autoimmune pulmonary alveolar proteinosis - a six month phase II randomized study with 24 months of follow-up

机译：吸入粒细胞 - 巨噬细胞殖民地刺激因子用于轻度至适度的自身免疫肺肺泡蛋白症 - 六个月的II期随机研究随访24个月
- 作者：Xinlun Tian;Yanli Yang;Lulu Chen;Xin Sui;Wenshuai Xu;Xue Li;Xiaobei Guo;Lingshan Liu;Yusen Situ;Jun Wang;Yang Zhao;Shuzhen Meng;Wei Song;Yonglong Xiao;Kai-Feng Xu
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
74.Creation and validation of a bladder dysfunction symptom score for HTLV-1-associated myelopathy/tropical spastic paraparesis

机译：创建和验证膀胱功能障碍症状评分对于HTLV-1相关的肌蛋胨/热带痉挛性痉挛
- 作者：Natsuko Yamakawa;Naoko Yagishita;Tomohiro Matsuo;Junji Yamauchi;Takahiko Ueno;Eisuke Inoue;Ayako Takata;Misako Nagasaka;Natsumi Araya;Daisuke Hasegawa;Ariella Coler-Reilly;Shuntaro Tsutsumi;Tomoo Sato;Abelardo Araujo;Jorge Casseb;Eduardo Gotuzzo;Steven Jacobson;Fabiola Martin;Marzia Puccioni-Sohler;Graham P. Taylor;Yoshihisa Yamano;Takeo Nakayama;Satoshi Kamei;Jun-ichi Kira;Toshiki Watanabe;Tatsuo Kohriyama;Akihiko Okayama;Atsushi Kawakami;Kenji Yuzawa;Masanori Nakagawa;Tatsufumi Nakamura;Ryuji Kubota;Eiji Matsuura;Koju Kamoi;Takashi Nakajima;Hiroyuki Murai;Kaoru Uchimaru;Yoshio Tsuboi;Yukihiro Namihira;Satoshi Ishihara;Masaaki Niino;Masahiro Nagai;Kunihiko Umekita;Norihiro Takenouchi;Toshio Matsuzaki;Youichi Hokezu;Hideki Nakamura;Takuya Matsushita;Yuji Morio;Hisashi Yonezawa;Takashi Tokashiki;Keiko Tamaki;Hirokuni Sakima;Naoko Yagishita;Tomohiro Matsuo;Junji Yamauchi;Eisuke Inoue;Ayako Takata;Natsumi Araya;Daisuke Hasegawa;Tomoo Sato;Yoshihisa Yamano
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
75.Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases

机译：与中国非BHD弥漫性囊肿肺疾病患者的患者CT扫描患者CT扫描的特征
- 作者：Wenshuai Xu;Zhiyan Xu;Yaping Liu;Yongzhong Zhan;Xin Sui;Ruie Feng;Min Peng;Xue Li;Jun Wang;Shuzhen Meng;Li Wang;Xinlun Tian;Xue Zhang;Kai-Feng Xu
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
76.Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity

机译：斯里兰卡的镰状细胞病：临床和分子基础以及关于疾病严重程度的未答复的问题
- 作者：Thamal Darshana;Dayananda Bandara;Upul Nawarathne;Udaya de Silva;Yasinta Costa;Kalavitigoda Pushpakumara;Sumithra Pathirage;Seuwandi Basnayake;Chamila Epa;Pradeepa Dilrukshi;Maheshaka Wijayawardena;Angela A. Anthony;Rexan Rodrigo;Aresha Manamperi;Frances Smith;Angela Allen;Stephan Menzel;David Rees;Anuja Premawardhena
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
77.Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry

机译：来自NHLBI资助的镰状细胞疾病实施联盟（SCDIC）注册表的数据收集表格
- 作者：Jeffrey A. Glassberg;Elizabeth A. Linton;Katrina Burson;Tabitha Hendershot;Joseph Telfair;Julie Kanter;Victor R. Gordeuk;Allison A. King;Cathy L. Melvin;Nirmish Shah;Jane S. Hankins;Axel Yannick Epié;Lynne D. Richardson
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
78.A phase II open-label extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis

机译：II期开放式标签长期Patisiran治疗术遗传性Transthyretin介导（HATTR）淀粉样蛋白病的延长研究
- 作者：Teresa Coelho;David Adams;Isabel Conceição;Márcia Waddington-Cruz;Hartmut H. Schmidt;Juan Buades;Josep Campistol;John L. Berk;Michael Polydefkis;Jing Jing Wang;Jihong Chen;Marianne T. Sweetser;Jared Gollob;Ole B. Suhr
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
79.Exome sequencing for diagnosis of congenital hemolytic anemia

机译：Exome测序用于先天性溶血性贫血的诊断
- 作者：Lamisse Mansour-Hendili;Abdelrazak Aissat;Bouchra Badaoui;Mehdi Sakka;Christine Gameiro;Valérie Ortonne;Orianne Wagner-Ballon;Serge Pissard;Véronique Picard;Khaldoun Ghazal;Michel Bahuau;Corinne Guitton;Ziad Mansour;Mylène Duplan;Arnaud Petit;Nathalie Costedoat-Chalumeau;Marc Michel;Pablo Bartolucci;Stéphane Moutereau;Benoît Funalot;Frédéric Galactéros
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
80.Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies

机译：与抗信号识别粒子抗体的难治性自身免疫病毒病变有关的因素
- 作者：Yawen Zhao;Wei Zhang;Yilin Liu;Zhaoxia Wang;Yun Yuan
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
81.Profiling trial burden and patients’ attitudes to improve clinical research in epidermolysis bullosa

机译：分析试验负担和患者的态度以改善表皮渗漏的临床研究
- 作者：Christine Prodinger;Anja Diem;Katherina Ude-Schoder;Josefina Piñón-Hofbauer;Sophie Kitzmueller;Johann W. Bauer;Martin Laimer
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
82.Clinical features treatment and survival outcome of primary pulmonary NUT midline carcinoma

机译：初级肺结核中线癌的临床特征治疗和存活结果
- 作者：Xiao-Hong Xie;Li-Qiang Wang;Yin-Yin Qin;Xin-Qing Lin;Zhan-Hong Xie;Ming Liu;Jie-Xia Zhang;Ming Ouyang;Jun Liu;Ying-Ying Gu;Shi-Yue Li;Cheng-Zhi Zhou
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
83.Evolution of Haemophilia Care in Europe: 10 years of the principles of care

机译：欧洲血友病护理的演变：10年的护理原则
- 作者：D. Noone;B. O’Mahony;F. Peyvandi;M. Makris;A. Bok
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
84.Integration of clinical parameters genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding

机译：临床参数基因型和外翻严重程度分数的整合以引导遗传出血性脑疝的治疗
- 作者：Joan D. Beckman;Quefeng Li;Samuel T. Hester;Ofri Leitner;Karen L. Smith;Raj S. Kasthuri
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
85.Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

机译：莫德尔疾病患者和其他肌肉糖糖蛋白患者的创建和实施欧洲登记处（EUROMAC登记处）
- 作者：Tomàs Pinós;Antoni L. Andreu;Claudio Bruno;Georgios M. Hadjigeorgiou;Ronald G. Haller;Pascal Laforêt;Alejandro Lucía;Miguel A. Martín;Andrea Martinuzzi;Carmen Navarro;Piraye Oflazer;Jean Pouget;Ros Quinlivan;Sabrina Sacconi;Renata S. Scalco;Antonio Toscano;John Vissing;Matthias Vorgerd;Andrew Wakelin;Ramon Martí;Antoni L. Andreu;Ramon Martí;Tomàs Pinós;Noemi Baruch;Francisco J. Ortega;Miguel A. Martín;Carmen Navarro;Beatriz San-Millán;Irene Vieitez;Andrea Martinuzzi;Marinela Vavla;Claudio Bruno;Antonio Toscano;Olimpia Musumeci;Pascal Laforêt;Sabrina Sacconi;Ros Quinlivan;Renata Scalco;Andrew Wakelin;Georgios Hadjgeorgiou;Elias Zintzaras;John Vissing;Matthias Vorgerd;Enrico Zülow;Ronald Haller;Piraye Oflazer;Hacer Durmus;Jean Pouget;Alejandro Lucía;Alfredo Santalla
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
86.Clinical and molecular spectrum of 46XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature

机译：46XY疾病的临床和分子谱港口MAMLD1变异：案例系列和文学综述
- 作者：Lele Li;Chang Su;Lijun Fan;Fenqi Gao;Xuejun Liang;Chunxiu Gong
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
87.Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approaches

机译：稀有疾病治疗需要补充评估/报销过程吗？国家方法的国际比较
- 作者：Elena Nicod;Amanda Whittal;Michael Drummond;Karen Facey
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
88.Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study

机译：伤口闭合在表皮水解blowosa：来自第3期精华研究的车辆臂的数据
- 作者：Dedee F. Murrell;Amy S. Paller;Christine Bodemer;John Browning;Milos Nikolic;Jay A. Barth;Hjalmar Lagast;Eva Krusinska;Allen Reha
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
89.Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

机译：以临床遗传疾病为中心诊断：临床医生决策支持的基因隐性度量的表现
- 作者：Michael M. Segal;Renee George;Peter Waltman;Ayman W. El-Hattab;Kiely N. James;Valentina Stanley;Joseph Gleeson
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
90.ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum current practice and outcomes

机译：骨髓肿瘤中的Etv6-ACSL6融合基因：临床频谱目前的实践和结果
- 作者：Xia Wu;Hao Cai;Yu Qiu;Jian Li;Dao-bin Zhou;Xin-xin Cao
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
91.Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

机译：ACVR1R206H突变的患者在纤维单胰岛素的自然历史研究中具有增加的心电图异常心脏传导异常的普遍性。
- 作者：Samuel Kou;Carmen De Cunto;Geneviève Baujat;Kelly L. Wentworth;Donna R. Grogan;Matthew A. Brown;Maja Di Rocco;Richard Keen;Mona Al Mukaddam;Kim-Hanh le Quan Sang;Umesh Masharani;Frederick S. Kaplan;Robert J. Pignolo;Edward C. Hsiao
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
92.Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study

机译：脊髓肌萎缩的儿童照顾者参与Nusinersen扩大访问计划的儿童：纵向定性研究
- 作者：Petra Kiefer;Janbernd Kirschner;Astrid Pechmann;Thorsten Langer
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
93.The infantile neuroaxonal dystrophy rating scale (INAD-RS)

机译：婴儿神经诈营类评级规模（INAD-RS）
- 作者：Paldeep S. Atwal;Mark Midei;Darius Adams;Alexander Fay;Frederic Heerinckx;Peter Milner
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
94.Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

机译：心血管涉及对儿科线粒体疾病临床进程的影响
- 作者：Alice Brambilla;Iacopo Olivotto;Silvia Favilli;Gaia Spaziani;Silvia Passantino;Elena Procopio;Amelia Morrone;Maria Alice Donati
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
95.Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

机译：75型古典ehlers-danlos综合征患者的多系统表现：自然历史和误解观点
- 作者：Marco Ritelli;Marina Venturini;Valeria Cinquina;Nicola Chiarelli;Marina Colombi
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
96.Onset features and time to diagnosis in Friedreich’s Ataxia

机译：发病特征和时间诊断弗里德德雷希的共济失调
- 作者：Elisabetta Indelicato;Wolfgang Nachbauer;Andreas Eigentler;Matthias Amprosi;Raffaella Matteucci Gothe;Paola Giunti;Caterina Mariotti;Javier Arpa;Alexandra Durr;Thomas Klopstock;Ludger Schöls;Ilaria Giordano;Katrin Bürk;Massimo Pandolfo;Claire Didszdun;Jörg B. Schulz;Sylvia Boesch
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
97.A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)

机译：MHEATH GM2 GREARIACIS中MHECHEATCE和可穿戴技术的可行性研究（TAY-SACHS和SANDHOFF疾病）
- 作者：Elin Haf Davies;Jean Johnston;Camilo Toro;Cynthia J. Tifft
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
98.Variable phenotypes and outcomes associated with the MMACHC c.609GA homologous mutation: long term follow-up in a large cohort of cases

机译：与MMACHC C.609G相关的可变表型和结果同源突变：大群组队列中的长期随访
- 作者：Ruxuan He;Ruo Mo;Ming Shen;Lulu Kang;Jinqing Song;Yi Liu;Zhehui Chen;Hongwu Zhang;Hongxin Yao;Yupeng Liu;Yao Zhang;Hui Dong;Ying Jin;Mengqiu Li;Jiong Qin;Hong Zheng;Yongxing Chen;Dongxiao Li;Haiyan Wei;Xiyuan Li;Huifeng Zhang;Min Huang;Chunyan Zhang;Yuwu Jiang;Desheng Liang;Yaping Tian;Yanling Yang
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
99.Characterization of tracheobronchomalacia in infants with hypophosphatasia

机译：次磷酸盐婴幼儿气管龙肿瘤的特征
- 作者：Raja Padidela;Robert Yates;Dan Benscoter;Gary McPhail;Elaine Chan;Jaya Nichani;M. Zulf Mughal;Charles Myer IV;Omendra Narayan;Claire Nissenbaum;Stuart Wilkinson;Shanggen Zhou;Howard M. Saal
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期
100.Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

机译：Megalence脑膜炎毛细血管畸形 - 多发性微生物综合征的表型和基因型的详细分析由PIK3CA突变的体细胞果皮中的肉瘤引起
- 作者：Hyun Jin Park;Chang Ho Shin;Won Joon Yoo;Tae-Joon Cho;Man Jin Kim;Moon-Woo Seong;Sung Sup Park;Jeong Ho Lee;Nam Suk Sim;Jung Min Ko
- 期刊名称：《Orphanet Journal of Rare Diseases》 | 2020年第-1期

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