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JIMD Reports

【机译】：JImD报告

ISSN：-
出版周期：
语言：English

起始发布年份：2011
出版者：Berlin : SSIEM and Springer-Verlag, c2011.
出版地：United States

NLM刊名缩写：JIMD Rep

数据库引入：PubMed: v1, 2011-, PMC

MeSH词表主题词：Metabolism, Inborn Errors*

备注：

期刊论文

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年度选择

2021
- Volume 57(1) 2021 Jan
- Volume 58(1) 2021 Mar
2020
2019
2018
- Volume 41 2018
- Volume 42 2018
- Volume 38 2018
- Volume 39 2018
- Volume 40 2018
2017
- Volume 36 2017
- Volume 37 2017
- Volume 31 2017
- Volume 32 2017
- Volume 33 2017
- Volume 34 2017
- Volume 35 2017
2016
- Volume 26 2016
- Volume 27 2016
- Volume 28 2016
- Volume 29 2016
- Volume 30 2016
- Volume 25 2016
2015
- Volume 21 2015
- Volume 22 2015
- Volume 23 2015
- Volume 24 2015
- Volume 15 2015
- Volume 18 2015
- Volume 19 2015
- Volume 20 2015
2014
- Volume 17 2014
- Volume 12 2014
- Volume 13 2014
- Volume 14 2014
- Volume 16 2014
2013
- Volume 11 2013
- Volume 7 2013
- Volume 8 2013
- Volume 9 2013
- Volume 10 2013
2012
- Volume 6 2012
- Volume 2 2012
- Volume 3 2012
- Volume 4 2012
- Volume 5 2012
2011
- Volume 1 2011

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全选（0）

1.Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases

机译：TRMU基因突变导致线粒体小儿肝病：三例新病例
- 作者：Pauline Gaignard;Emmanuel Gonzales;Oanez Ackermann;Philippe Labrune;Isabelle Correia;Patrice Therond;Emmanuel Jacquemin;Abdelhamid Slama
- 期刊名称：《JIMD Reports》 | 2013年第-1期
2.A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus

机译：一名患有严重表型的猎人患者发现有两个大缺失和两个重复，分别向IDS基因座延伸了1.2 Mb
- 作者：Alessandra Zanetti;Rosella Tomanin;Angelica Rampazzo;Chiara Rigon;Nicoletta Gasparotto;Matteo Cassina;Maurizio Clementi;Maurizio Scarpa
- 期刊名称：《JIMD Reports》 | 2006年第期
3.Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria

机译：尼西酮的剂量增加对碱性磷酸酶尿症的代谢作用
- 作者：Ilya Gertsman;Bruce A. Barshop;Jan Panyard-Davis;Jon A. Gangoiti;William L. Nyhan
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- Alkaptonuria Inborn errors of metabolism Metabolomics Nitisinone Tyrosine metabolism Tyrosinemia;
4.A New Approach for Fast Metabolic Diagnostics in CMAMMA

机译：CMAMMA中快速代谢诊断的新方法
- 作者：Monique G. M. de Sain-van der Velden;Maria van der Ham;Judith J. Jans;Gepke Visser;Hubertus C. M. T. Prinsen;Nanda M. Verhoeven-Duif;Koen L. I. van Gassen;Peter M. van Hasselt
- 期刊名称：《JIMD Reports》 | 2016年第-1期
5.Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

机译：代谢临床图集：加拿大遗传性代谢疾病儿童的护理组织
- 作者：Monica F. Lamoureux;Kylie Tingley;Jonathan B. Kronick;Beth K. Potter;Alicia K. J. Chan;Doug Coyle;Linda Dodds;Sarah Dyack;Annette Feigenbaum;Michael Geraghty;Jane Gillis;Cheryl Rockman-Greenberg;Aneal Khan;Julian Little;Jennifer MacKenzie;Bruno Maranda;Aizeddin Mhanni;John J. Mitchell;Grant Mitchell;Anne-Marie Laberge;Murray Potter;Chitra Prasad;Komudi Siriwardena;Kathy N. Speechley;Sylvia Stockler;Yannis Trakadis;Lesley Turner;Clara Van Karnebeek;Kumanan Wilson;Pranesh Chakraborty
- 期刊名称：《JIMD Reports》 | 2015年第-1期
6.Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital

机译：胆囊疾病的颅内高压是一个挑战：在儿童医院的经验
- 作者：Nieves Martín-Begué;Silvia Alarcón;Charlotte Wolley-Dod;Luis Enrique Lara;Álvaro Madrid;Paola Cano;Mireia del Toro;Gema Ariceta
- 期刊名称：《JIMD Reports》 | 2017年第-1期
7.Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease

机译：糖原贮积病患者的饮食失调和身体自尊
- 作者：Theresa B. Flanagan;Jill A. Sutton;Laurie M. Brown;David A. Weinstein;Lisa J. Merlo
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- Body esteem Body image Disordered eating Mental health Metabolic disorder;
8.The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings

机译：希腊的克拉布氏病谱：生化和分子发现
- 作者：Evangelia Dimitriou;Monica Cozar;Irene Mavridou;Daniel Grinberg;Lluïsa Vilageliu;Helen Michelakakis
- 期刊名称：《JIMD Reports》 | 2016年第-1期
9.Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I

机译：糖原贮积性疾病I型患者严格饮食治疗对肝细胞腺瘤的消退
- 作者：Richard D. Beegle;Laurie M. Brown;David A. Weinstein
- 期刊名称：《JIMD Reports》 | 2015年第-1期
10.Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias

机译：急性肝卟啉症中恶性肿瘤的发生
- 作者：Estefanía Lang;Martin Schäfer;Holger Schwender;Norbert J. Neumann;Jorge Frank
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- Acute hepatic porphyrias Acute intermittent porphyria Hepatocellular carcinoma Hereditary coproporphyria Porphyrias Variegate porphyria δ-Aminolaevulinic acid dehydratase-deficient porphyria;
11.Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

机译：脊柱干phy发育不良和双侧Leg-Calvé-Perthes疾病：粘多糖贮积酶的诊断注意事项
- 作者：Nancy J. Mendelsohn;Timothy Wood;Rebecca A. Olson;Renee Temme;Susan Hale;Haoyue Zhang;Lisa Read;Klane K. White
- 期刊名称：《JIMD Reports》 | 2013年第-1期
12.Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

机译：一群意大利线粒体脑心肌病患者的常见和新型TMEM70突变
- 作者：Daria Diodato;Federica Invernizzi;Eleonora Lamantea;Gigliola Fagiolari;Rossella Parini;Francesca Menni;Giancarlo Parenti;Lina Bollani;Elisabetta Pasquini;Maria A. Donati;Denise Cassandrini;Filippo M. Santorelli;Tobias B. Haack;Holger Prokisch;Daniele Ghezzi;Costanza Lamperti;Massimo Zeviani
- 期刊名称：《JIMD Reports》 | 2015年第-1期
13.Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria

机译：碱性磷酸酶尿症患者血清尼古丁酮浓度与同型尿酸和酪氨酸的关系
- 作者：Birgitta Olsson;Trevor F Cox;Eftychia E Psarelli;Johan Szamosi;Andrew T Hughes;Anna M Milan;Anthony K Hall;Jozef Rovensky;Lakshminarayan R Ranganath
- 期刊名称：《JIMD Reports》 | 2015年第-1期
14.Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum

机译：血浆/血清中酰基肉碱外部质量保证计划的试点经验
- 作者：P. Ruiz Sala;G. Ruijter;C. Acquaviva;A. Chabli;M. G. M. de Sain-van der Velden;J. Garcia-Villoria;M. R. Heiner-Fokkema;E. Jeannesson-Thivisol;K. Leckstrom;L. Franzson;G. Lynes;J. Olesen;W. Onkenhout;P. Petrou;A. Drousiotou;A. Ribes;C. Vianey-Saban;B. Merinero
- 期刊名称：《JIMD Reports》 | 2016年第-1期
- Acylcarnitines External quality assurance Fatty acid oxidation defects Organic acidurias;
15.One Year Experience of Pheburane® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency

机译：苯丙氨酸钠（苯丁酸钠）治疗精氨酸琥珀酸裂合酶缺乏症的一年经验
- 作者：Sema Kalkan Uçar;Burcu Ozbaran;Yasemin Atik Altinok;Melis Kose;Ebru Canda;Mehtap Kagnici;Mahmut Coker
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- Argininosuccinic aciduria Pheburanesup®/sup Sodium phenylbutyrate;
16.Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide

机译：使用特立帕肽改善高雪病患者的骨矿物质密度和结构
- 作者：Aneal Khan;David A. Hanley;Colleen McNeil;Steven Boyd
- 期刊名称：《JIMD Reports》 | 2015年第-1期
17.Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics

机译：孕产妇苯丙酮尿症：后代和孕后孕产妇特征的长期结果
- 作者：S. E. Waisbren;F. Rohr;V. Anastasoaie;M. Brown;D. Harris;A. Ozonoff;S. Petrides;A. Wessel;H. L. Levy
- 期刊名称：《JIMD Reports》 | 2015年第-1期
18.Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease

机译：蛋白酶体抑制剂硼替佐米可增强庞贝病中溶酶体α-葡萄糖苷酶多种突变形式的活性
- 作者：Yohta Shimada;Erica Nishimura;Hiroo Hoshina;Hiroshi Kobayashi;Takashi Higuchi;Yoshikatsu Eto;Hiroyuki Ida;Toya Ohashi
- 期刊名称：《JIMD Reports》 | 2015年第-1期
19.Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

机译：运动耐受性和肌红蛋白尿与一种新的母亲遗传的MT-ND1突变相关。
- 作者：Jabin Rafiq;Morten Duno;Elsebet Østergaard;Kirstine Ravn;Christoffer R. Vissing;Flemming Wibrand;John Vissing
- 期刊名称：《JIMD Reports》 | 2016年第-1期
20.Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature

机译：癫痫持续状态中的严重呼吸性酸中毒是Lesch-Nyhan病猝死的可能病因：一例病例报告并文献复习
- 作者：Alison Christy;William Nyhan;Jenny Wilson
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Epilepsy HPRT Lesch–Nyhan disease Sudden death Sudden death in epilepsy SUDEP;
21.Newborn Screening for Galactosemia in the United States: Looking Back Looking Around and Looking Ahead

机译：美国半乳糖血症的新生儿筛查：回顾环顾四周和展望未来
- 作者：Brook M. Pyhtila;Kelly A. Shaw;Samantha E. Neumann;Judith L. Fridovich-Keil
- 期刊名称：《JIMD Reports》 | 2015年第-1期
22.Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

机译：CblD缺陷引起的甲基丙二酸血症严重的新生儿代谢失代偿
- 作者：R. Parini;F. Furlan;A. Brambilla;D. Codazzi;S. Vedovati;C. Corbetta;T. Fedeli;B. Merinero;B. Pérez;M. Ugarte
- 期刊名称：《JIMD Reports》 | 2013年第-1期
23.Antiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort

机译：抗癫痫药物会增加男性法布里病患者的骨质疏松症风险：澳大利亚队列中的骨矿物质密度
- 作者：Andrew Talbot;Joanna R. Ghali;Kathy Nicholls
- 期刊名称：《JIMD Reports》 | 2006年第期
24.False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency

机译：假阳性新生儿筛查使用Beutler点检法测定半乳糖血症在6磷酸葡萄糖脱氢酶缺乏症中的作用
- 作者：Grace Stuhrman;Stefanie J. Perez Juanazo;Kea Crivelly;Jennifer Smith;Hans Andersson;Eva Morava
- 期刊名称：《JIMD Reports》 | 2017年第-1期
25.Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria

机译：调查碱性磷酸酶尿中细胞外基质重塑生物标志物的稳健性和诊断潜力
- 作者：F. Genovese;A. S. Siebuhr;K. Musa;J. A. Gallagher;A. M. Milan;M. A. Karsdal;J. Rovensky;A. C. Bay-Jensen;L. R. Ranganath
- 期刊名称：《JIMD Reports》 | 2015年第-1期
26.ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

机译：ECHS1缺乏症是严重新生儿乳酸性酸中毒的原因
- 作者：Rebecca D. Ganetzky;Kaitlyn Bloom;Rebecca Ahrens-Nicklas;Andrew Edmondson;Matthew A. Deardorff;Michael J. Bennett;Can Ficicioglu
- 期刊名称：《JIMD Reports》 | 2016年第-1期
- Enoyl-CoA hydratase Lactic acidosis Mitochondrial disease;
27.Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

机译：有机酸尿症和尿素循环障碍患者跨境联网：E-IMD联盟
- 作者：Stefan Kölker;Dries Dobbelaere;Johannes Häberle;Peter Burgard;Florian Gleich;Marshall L. Summar;Steven Hannigan;Samantha Parker;Anupam Chakrapani;Matthias R. Baumgartner
- 期刊名称：《JIMD Reports》 | 2015年第-1期
28.Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient

机译：钴胺素A（cblA）患者通过皮下导管装置施用维生素B12
- 作者：E. Maines;G. Morandi;G. Gugelmo;F. Ion-Popa;N. Campostrini;A. Pasini;M. Vincenzi;F. Teofoli;M. Camilot;A. Bordugo
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Cobalamin A Hydroxocobalamin Intracellular cobalamin metabolism disorders Subcutaneous cathether device Vitamin B12;
29.Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System Second Edition (ABAS-II) and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk

机译：评估代谢性疾病的心理功能：适应性行为评估系统第二版（ABAS-II）的验证以及执行功能的行为评级清单（BRIEF）用于识别有风险的个体
- 作者：Susan E. Waisbren;Jianping He;Robert McCarter
- 期刊名称：《JIMD Reports》 | 2015年第-1期
30.Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature

机译：生长激素缺乏症和赖氨酸尿蛋白不耐受：病例报告和文献复习
- 作者：Maines Evelina;Morandi Grazia;Olivieri Francesca;Camilot Marta;Cavarzere Paolo;Gaudino Rossella;Antoniazzi Franco;Bordugo Andrea
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- Arginine Growth hormone deficiency Lysine Lysinuric protein intolerance Ornithine Protein malnutrition;
31.PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

机译：PNPO缺乏和肝硬化：扩大临床表型？
- 作者：D. Coman;P. Lewindon;P. Clayton;K. Riney
- 期刊名称：《JIMD Reports》 | 2016年第-1期
32.Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments

机译：法布里氏病成年人的认知功能：使用基于电话的评估的病例对照可行性研究
- 作者：Virginia G. Wadley;Leslie A. McClure;David G. Warnock;Caroline L. Lassen-Greene;Robert J. Hopkin;Dawn A. Laney;Virginia M. Clarke;Manjula Kurella Tamura;George Howard;Katherine Sims
- 期刊名称：《JIMD Reports》 | 2015年第-1期
33.The Complexity of Newborn Screening Follow-Up in Phenylketonuria

机译：苯丙酮尿症新生儿筛查随访的复杂性
- 作者：Leah E. Hecht;Ann E. Wessel;Harvey L. Levy;Gerard T. Berry
- 期刊名称：《JIMD Reports》 | 2006年第期
34.Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations

机译：Fanconi-Bickel综合征伴相同突变的患者的表型变异
- 作者：Elena Fridman;Avraham Zeharia;Tal Markus-Eidlitz;Yishai Haimi Cohen
- 期刊名称：《JIMD Reports》 | 2015年第-1期
35.Socio-emotional Problems in Children with CDG

机译：CDG儿童的社会情感问题
- 作者：K. F. E. van de Loo;L. van Dongen;M. Mohamed;T. Gardeitchik;T. W. Kouwenberg;S. B. Wortmann;R. J. T. Rodenburg;D. J. Lefeber;E. Morava;C. M. Verhaak
- 期刊名称：《JIMD Reports》 | 2013年第-1期
36.Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions

机译：尽管饮食肉类限制但长期口服左旋肉碱补充剂可导致有机酸血症患者血浆TMAO升高
- 作者：Marcus J. Miller;Bret L. Bostwick;Adam D. Kennedy;Taraka R. Donti;Qin Sun;V. Reid Sutton;Sarah H. Elsea
- 期刊名称：《JIMD Reports》 | 2016年第-1期
37.Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach

机译：线粒体疾病患儿的日常体育活动领域：3D加速计方法
- 作者：Saskia Koene;Ilse Dirks;Esmee van Mierlo;Pascal R. de Vries;Anjo J. W. M. Janssen;Jan A. M. Smeitink;Arjen Bergsma;Hans Essers;Kenneth Meijer;Imelda J. M. de Groot
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- 3D accelerometry Children Daily physical activity Mitochondrial disease Outcome measures;
38.Age-Related Deviation of Gait from Normality in Alkaptonuria

机译：与年龄相关的步态偏离碱性磷酸酶尿症
- 作者：Gabor J. Barton;Stephanie L. King;Mark A. Robinson;Malcolm B. Hawken;Lakshminarayan R. Ranganath
- 期刊名称：《JIMD Reports》 | 2015年第-1期
39.Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

机译：印度患者戊二酸血症1-型临床分子概况和GCDH基因新突变
- 作者：Neerja Gupta;Pawan Kumar Singh;Manoj Kumar;Shivaram Shastri;Sheffali Gulati;Atin Kumar;Anuja Agarwala;Seema Kapoor;Mohandas Nair;Savita Sapra;Sudhisha Dubey;Ankur Singh;Punit Kaur;Madhulika Kabra
- 期刊名称：《JIMD Reports》 | 2015年第-1期
40.Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

机译：线粒体肌病患者中SLC25A4基因的两个新突变。
- 作者：I. M. L. W. Körver-Keularts;M. de Visser;H. D. Bakker;R. J. A. Wanders;F. Vansenne;H. R. Scholte;L. Dorland;G. A. F. Nicolaes;L. M. J. Spaapen;H. J. M. Smeets;A. T. M. Hendrickx;B. J. C. van den Bosch
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- Hypertrophic cardiomyopathy Mitochondrial myopathy Novel mutations SLC25A4;
41.Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine

机译：分离的升高的丙酰基肉碱对丙酸血症表型谱的扩展
- 作者：Gerarda Cappuccio;Paldeep S. Atwal;Taraka R. Donti;Kiki Ugarte;Nadia Merchant;William J. Craigen;V. Reid Sutton;Sarah H. Elsea
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- 2-Methylcitrate 3-Hydroxypropionate Acyl-carnitine Atypical Phenotype C3 Propionic acidemia;
42.Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series

机译：长期间歇性卟啉症长期血红素精氨酸治疗与铁累积相关的肝纤维化：病例系列。
- 作者：Barbara Willandt;Janneke G. Langendonk;Katharina Biermann;Wouter Meersseman;François D’Heygere;Christophe George;Chris Verslype;Diethard Monbaliu;David Cassiman
- 期刊名称：《JIMD Reports》 | 2016年第-1期
43.Clinical Biochemical and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

机译：丹吉尔病家族中ABCA1新型突变的临床生化和分子表征
- 作者：Liam R. Brunham;Martin H. Kang;Clara Van Karnebeek;Singh N. Sadananda;Jennifer A. Collins;Lin-Hua Zhang;Bryan Sayson;Fudan Miao;Sylvia Stockler;Jiri Frohlich;David Cassiman;Simon W. Rabkin;Michael R. Hayden
- 期刊名称：《JIMD Reports》 | 2015年第-1期
44.A Homozygous Splice Site Mutation in SLC25A42 Encoding the Mitochondrial Transporter of Coenzyme A Causes Metabolic Crises and Epileptic Encephalopathy

机译：SLC25A42中的纯合剪接位点突变编码辅酶A的线粒体转运蛋白引起代谢危机和癫痫性脑病
- 作者：Arcangela Iuso;Bader Alhaddad;Corina Weigel;Urania Kotzaeridou;Elisa Mastantuono;Thomas Schwarzmayr;Elisabeth Graf;Caterina Terrile;Holger Prokisch;Tim M. Strom;Georg F. Hoffmann;Thomas Meitinger;Tobias B. Haack
- 期刊名称：《JIMD Reports》 | 2019年第-1期
45.Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia

机译：预防经典半乳糖血症患者低骨量的修订提案
- 作者：Britt van Erven;Myrna M. M. Römers;M. Estela Rubio-Gozalbo
- 期刊名称：《JIMD Reports》 | 2006年第期
46.Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme®) to Agalsidase Alfa (Replagal®)

机译：从严重的不良事件相关的法布里病患者中成功进行酶替代疗法的管理方法是从Agalsidase Beta（Fabrazyme®）转换为Agalsidase Alfa（Replagal®）
- 作者：Kazuya Tsuboi;Hiroshi Yamamoto;Fuji Somura;Hiromi Goto
- 期刊名称：《JIMD Reports》 | 2015年第-1期
47.A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

机译：在意大利的HGD G360R突变的创始人效应：对碱性磷酸酶尿症的区域筛查的意义。
- 作者：Berardino Porfirio;Roberta Sestini;Greta Gorelli;Miriam Cordovana;Alessandro Mannoni;Jeanette L. Usher;Wendy J. Introne;William A. Gahl;Thierry Vilboux
- 期刊名称：《JIMD Reports》 | 2016年第-1期
- Alkaptonuria Founder effect Genetic screening Mutation age Ochronosis;
48.Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C

机译：Miglustat治疗C型尼曼-匹克病后长期增强类似皮质可塑性和胆碱能功能障碍的初步结果
- 作者：Alberto Benussi;Maria Sofia Cotelli;Maura Cosseddu;Valeria Bertasi;Marinella Turla;Ettore Salsano;Andrea Dardis;Alessandro Padovani;Barbara Borroni
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Long-term potentiation-like cortical plasticity Miglustat Niemann-Pick disease type C Short latency afferent inhibition Transcranial magnetic stimulation;
49.Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family

机译：高同型半胱氨酸血症中总同型半胱氨酸和相关化合物的代谢谱：实用和局限性在一个家庭中令人费解的血栓形成的诊断原因。
- 作者：Sally P. Stabler;Mark Korson;Reena Jethva;Robert H. Allen;Jan P. Kraus;Elaine B. Spector;Conrad Wagner;S. Harvey Mudd
- 期刊名称：《JIMD Reports》 | 2013年第-1期
50.Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA 5-HTP and BH4 Trials

机译：合并第二名患者的Sepaapterin还原酶和甲基丙二酰辅酶A差向异构酶缺乏症：I-DOPA5-HTP和BH4试验的脑脊液多不饱和脂肪酸水平和随访
- 作者：Michel Mazzuca;Marie-Anne Maubert;Léna Damaj;Fabienne Clot;Marylène Cadoudal;Christele Dubourg;Sylvie Odent;Jean François Benoit;Nadia Bahi-Buisson;Laurence Christa;Pascale de Lonlay
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- BH4 CSF PUFA level Methylmalonyl-CoA epimerase deficiency Sepiapterin reductase deficiency;
51.Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice

机译：Nitisinone逮捕但不能逆转碱性磷酸酶小鼠的年龄变迁。
- 作者：Craig M Keenan;Andrew J Preston;Hazel Sutherland;Peter J Wilson;Eftychia E Psarelli;Trevor F Cox;Lakshminarayan R Ranganath;Jonathan C Jarvis;James A Gallagher
- 期刊名称：《JIMD Reports》 | 2015年第-1期
52.A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

机译：回顾性调查研究法布里病对怀孕的影响
- 作者：Alexandrea Holmes;Dawn Laney
- 期刊名称：《JIMD Reports》 | 2015年第-1期
53.Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis

机译：线粒体磷酸盐载体SLC25A3的病理变化：两名新患者和有/无乳酸性酸中毒的心肌病/骨骼肌病表型的扩大
- 作者：E. J. Bhoj;M. Li;R. Ahrens-Nicklas;L. C. Pyle;J. Wang;V. W. Zhang;C. Clarke;L. J. Wong;N. Sondheimer;C. Ficicioglu;M. Yudkoff
- 期刊名称：《JIMD Reports》 | 2015年第-1期
54.Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

机译：DNAJC19中先前未报道的双等位基因突变：扩张性心肌病和共济失调（DCMA）综合征的感音神经性听力减退和基底神经节病变是否还存在？
- 作者：Sema Kalkan Ucar;Johannes A. Mayr;René G. Feichtinger;Ebru Canda;Mahmut Çoker;Saskia B. Wortmann
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- 3-Methylglutaconic aciduria Dilated cardiomyopathy Mitochondrial;
55.GM2-Gangliosidosis AB Variant: Clinical Ophthalmological MRI and Molecular Findings

机译：GM2-神经节病AB变体：临床眼科MRI和分子发现
- 作者：Deborah Renaud;Michael Brodsky
- 期刊名称：《JIMD Reports》 | 2016年第-1期
56.Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

机译：3-Hydroxy-3-Methylglutaryl-CoA Lyase缺乏症患者两次妊娠的良好结果
- 作者：David Santosa;Markus G. Donner;Stephan vom Dahl;Markus Fleisch;Thomas Hoehn;Ertan Mayatepek;Katrin Heldt;Tim Niehues;Dieter Häussinger
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- 3-Hydroxy-3-methylglutaryl(HMG)-CoA lyase deficiency Inherited metabolic disease Pregnancy;
57.Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

机译：早期脐血干细胞移植不能预防III型粘多糖贮积病的神经系统恶化
- 作者：Lindsey Welling;Jan Pieter Marchal;Peter van Hasselt;Ans T. van der Ploeg;Frits A. Wijburg;Jaap Jan Boelens
- 期刊名称：《JIMD Reports》 | 2015年第-1期
58.Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy

机译：X联肾上腺皮质营养不良症中继发性肌张力障碍的深部脑刺激和丹特罗。
- 作者：Clara van Karnebeek;Gabriella Horvath;Tyler Murphy;Jacqueline Purtzki;Kristin Bowden;Sandra Sirrs;Christopher R. Honey;Sylvia Stockler
- 期刊名称：《JIMD Reports》 | 2015年第-1期
59.m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening

机译：m.8993T> G相关性李氏综合征伴低瓜氨酸血症的新生儿筛查
- 作者：Mari Mori;John R. Mytinger;Lisa C. Martin;Dennis Bartholomew;Scott Hickey
- 期刊名称：《JIMD Reports》 | 2006年第期
60.Difficulties in Daily Life and Associated Factors and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review

机译：日本遗传代谢疾病患儿及其父母的日常生活困难及相关因素和生活质量研究综述
- 作者：Keiko Yamaguchi;Rie Wakimizu;Mitsuru Kubota
- 期刊名称：《JIMD Reports》 | 2017年第-1期
61.Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency

机译：Transaldolase缺乏症患者对乙酰氨基酚的明显毒性。
- 作者：Jasmine Lee-Barber;Taylor E. English;Jacquelyn F. Britton;Nara Sobreira;Jason Goldstein;David Valle;Hans Tomas Bjornsson
- 期刊名称：《JIMD Reports》 | 2019年第-1期
- Acetaminophen Actionable genetic disorders Pentose phosphate pathway Transaldolase deficiency Treatment of genetic diseases Whole exome sequencing;
62.Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI

机译：快速脱敏对MPS VI患者立即对加硫酸酶治疗过敏
- 作者：Zeynep Tamay;Gulden Gokcay;Fatih Dilek;Mehmet Cihan Balci;Deniz Ozceker;Mubeccel Demirkol;Nermin Guler
- 期刊名称：《JIMD Reports》 | 2016年第-1期
63.Prevalence of Mucopolysaccharidosis Types I II and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS

机译：I型II型和VI型黏多糖贮积症在患有腕管综合症（CTS）的儿童和成人中的患病率。回顾和前瞻性分析接受CTS治疗的患者
- 作者：Mette Borch Nørmark;Nanna Kjaer;Allan Meldgaard Lund
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Carpal tunnel syndrome High-risk screening MPS Mucopolysaccharidosis Screening;
64.Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience

机译：非免疫性水肿胎儿（NIHF）的溶酶体贮积病：印度的经验。
- 作者：Jayesh Sheth;Mehul Mistri;Krati Shah;Mayank Chaudhary;Koumudi Godbole;Frenny Sheth
- 期刊名称：《JIMD Reports》 | 2017年第-1期
65.First Successful Conception Induced by a Male Cystinosis Patient

机译：男性膀胱炎患者首次成功受孕
- 作者：Koenraad R. Veys;Kathleen W. D’Hauwers;Angelique J. C. M. van Dongen;Mirian C. Janssen;Martine T. P. Besouw;Ellen Goossens;Lambert P. van den Heuvel;Alex A. M. M. Wetzels;Elena N. Levtchenko
- 期刊名称：《JIMD Reports》 | 2018年第-1期
- Assisted reproductive technology Azoospermia Cystinosis Male infertility;
66.Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

机译：在急性紫癜患者中使用常规血红素精氨酸输注以预防复发症状的审核
- 作者：Joanne T. Marsden;Simon Guppy;Penelope Stein;Timothy M. Cox;Michael Badminton;Tricia Gardiner;Julian H. Barth;M. Felicity Stewart;David C. Rees
- 期刊名称：《JIMD Reports》 | 2015年第-1期
67.The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism Composition and Chemical Analysis

机译：碱性蛋白尿症中的色素与黑色素和其他有色物质的关系：代谢组成和化学分析的综述
- 作者：N. B. Roberts;S. A. Curtis;A. M. Milan;L. R. Ranganath
- 期刊名称：《JIMD Reports》 | 2015年第-1期
68.Successful Pregnancy in a Young Woman with Multiple Acyl-CoADehydrogenase Deficiency

机译：一名多酰基辅酶A的年轻妇女成功怀孕脱氢酶缺乏症
- 作者：Annalisa Creanza;Mariella Cotugno;Cristina Mazzaccara;Giulia Frisso;Giancarlo Parenti;Brunella Capaldo
- 期刊名称：《JIMD Reports》 | 2018年第-1期
- Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) Nutritional management Pregnancy;
69.Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

机译：胃内在因子（GIF）缺乏症的生化和血液学表现：安大略西南部旧秩序门诺石人口中B12缺乏症的可治疗原因
- 作者：A. Ferrand;V. M. Siu;C. A. Rupar;M. P. Napier;O. Y. Al-Dirbashi;P. Chakraborty;C. Prasad
- 期刊名称：《JIMD Reports》 | 2015年第-1期
70.Evaluation of Implementation Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines

机译：评估最新提议的尿素循环障碍指南的实施适应和使用
- 作者：Johannes Häberle;Martina Huemer
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- AGREE instrument Guidelines SIGN methodology Urea cycle disorders;
71.Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia

机译：甲基丙二酸血症患者成功进行多米诺肝移植
- 作者：A. Khanna;R. Gish;S. C. Winter;W. L. Nyhan;B. A. Barshop
- 期刊名称：《JIMD Reports》 | 2016年第-1期
72.Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

机译：患有陶醉型先天性代谢错误：对小儿患者及其父母的访谈的定性分析
- 作者：Nina A. Zeltner;Markus A. Landolt;Matthias R. Baumgartner;Sarah Lageder;Julia Quitmann;Rachel Sommer;Daniela Karall;Chris Mühlhausen;Andrea Schlune;Sabine Scholl-Bürgi;Martina Huemer
- 期刊名称：《JIMD Reports》 | 2017年第-1期
73.Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2TG Mutation in Wolman Disease

机译：溶酶体酸性脂肪酶缺乏症在23例西班牙患者中：沃尔曼病中新型c.966 + 2T G突变的发生率很高
- 作者：Carla Ruiz-Andrés;Elena Sellés;Angela Arias;Laura Gort
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- CESD Cholesteryl ester storage disorder Haplotype analysis LAL deficiency LIPA gene Mutation Wolman disease;
74.Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion

机译：FBXL4相关脑脊髓线粒体DNA耗竭的详细生化和生物能表征。
- 作者：Ghadi Antoun;Skye McBride;Jason R. Vanstone;Turaya Naas;Jean Michaud;Stephanie Redpath;Hugh J. McMillan;Jason Brophy;Hussein Daoud;Pranesh Chakraborty;David Dyment;Martin Holcik;Mary-Ellen Harper;Matthew A. Lines
- 期刊名称：《JIMD Reports》 | 2016年第-1期
75.Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

机译：肝硬化和肝衰竭：成年酸性鞘磷脂酶缺陷型尼曼-皮克病的扩展表型
- 作者：Olivier Lidove;Frédéric Sedel;Frédéric Charlotte;Roseline Froissart;Marie T. Vanier
- 期刊名称：《JIMD Reports》 | 2015年第-1期
76.Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

机译：成年庞贝病患者急迫性尿失禁和胃肠道症状：跨部门调查
- 作者：Nesrin Karabul;Anika Skudlarek;Janine Berndt;Cornelia Kornblum;Rudolf A. Kley;Stephan Wenninger;Nikolaus Tiling;Eugen Mengel;Ursula Plöckinger;Matthias Vorgerd;Marcus Deschauer;Benedikt Schoser;Frank Hanisch
- 期刊名称：《JIMD Reports》 | 2006年第期
77.Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease

机译：婴幼儿发作性庞贝病的吞咽预后和随访方案
- 作者：Gyani Swift;Maureen Cleary;Stephanie Grunewald;Sonia Lozano;Martina Ryan;James Davison
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Enzyme replacement therapy Feeding Functional oral intake scale Infantile onset Pompe disease Oro-pharyngeal dysphagia;
78.Sialuria: Ninth Patient Described Has a Novel Mutation in GNE

机译：唾液尿：描述的第九名患者在GNE中具有新型突变
- 作者：Noelia Nunez Martinez;Michelle Lipke;Jacqueline Robinson;Bridget Wilcken
- 期刊名称：《JIMD Reports》 | 2019年第-1期
- GNE Hepatomegaly Sialic acids Sialuria UDP acetylglucosamine-2-epimerase;
79.Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

机译：与天冬酰胺合成酶缺乏症的姐妹的ph肌事件：一种新型的纯合子ASNS突变和扩展的表型。
- 作者：Jun Sun;Angela J McGillivray;Jason Pinner;Zhihui Yan;Fengxia Liu;Drago Bratkovic;Elizabeth Thompson;Xiuxiu Wei;Huifeng Jiang;Asan;Maya Chopra
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- ASNS ASNSD Asparagine synthetase deficiency Cerebral atrophy Congenital microcephaly Hyperekplexia;
80.LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway

机译：蝶呤生物合成途径中脑脊液代谢产物的LC-MS / MS分析
- 作者：Erland Arning;Teodoro Bottiglieri
- 期刊名称：《JIMD Reports》 | 2016年第-1期
81.The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening

机译：正常筛查儿童的脂肪酸氧化紊乱和有机酸血症的风险
- 作者：Callum Wilson;Detlef Knoll;Mark de Hora;Campbell Kyle;Emma Glamuzina;Dianne Webster
- 期刊名称：《JIMD Reports》 | 2017年第-1期
82.Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor

机译：从相关杂合活体供体肝移植后枫糖浆尿病的急性代谢危机。
- 作者：Aisha Al-Shamsi;Alastair Baker;Anil Dhawan;Jozef Hertecant
- 期刊名称：《JIMD Reports》 | 2016年第-1期
- Heterozygous donor Liver transplant Metabolic crisis MSUD;
83.Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain but Not to Disease Progression in Adult m.3243AG Carriers

机译：血清GDF15水平与线粒体疾病的严重程度和心肌张力有关但与成人m.3243A G携带者的疾病进展无关
- 作者：Saskia Koene;Paul de Laat;Doorlène H. van Tienoven;Gert Weijers;Dennis Vriens;Fred C. G. J. Sweep;Janneke Timmermans;Livia Kapusta;Mirian C. H. Janssen;Jan A. M. Smeitink
- 期刊名称：《JIMD Reports》 | 2015年第-1期
84.Glutaric Acidemia Type 1: A Case of Infantile Stroke

机译：戊二酸血症1型：1例婴儿中风
- 作者：Gül Demet Kaya Ozcora;Songul Gokay;Mehmet Canpolat;Fatih Kardaş;Mustafa Kendirci;Sefer Kumandaş
- 期刊名称：《JIMD Reports》 | 2018年第-1期
- GCDH gene Glutaric acidemia type 1 Infant stroke Missense mutation Protein restricted diet;
85.Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy

机译：PNPO缺陷型新生儿癫痫性脑病患者的正常脑脊液吡rid醛5-磷酸水平
- 作者：Alina Levtova;Stephane Camuzeaux;Anne-Marie Laberge;Pierre Allard;Catherine Brunel-Guitton;Paola Diadori;Elsa Rossignol;Keith Hyland;Peter T. Clayton;Philippa B. Mills;Grant A. Mitchell
- 期刊名称：《JIMD Reports》 | 2015年第-1期
86.Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

机译：肌内注射叶酸叶酸在遗传性叶酸吸收不良中的作用：三例报告
- 作者：Emanuela Manea;Paul Gissen;Simon Pope;Simon J. Heales;Spyros Batzios
- 期刊名称：《JIMD Reports》 | 2018年第-1期
- CSF 5-MTHF Hereditary folate malabsorption Intramuscular Levofolinic acid Treatment;
87.Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

机译：原发性肉碱缺乏症：是否会影响胎儿发育并可以改善新生儿筛查？
- 作者：Jan Rasmussen;David M. Hougaard;Noreen Sandhu;Katrine Fjællegaard;Poula R. Petersen;Ulrike Steuerwald;Allan M. Lund
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Apgar Faroe Islands Newborn screening Primary carnitine deficiency;
88.Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme

机译：为荷兰新生儿筛查计划建立半乳糖1-磷酸-尿苷基转移酶缺乏症的新的临界值
- 作者：E. A. Kemper;A. Boelen;A. M. Bosch;M. van Veen-Sijne;C. N. van Rijswijk;M. J. Bouva;R. Fingerhut;P. C. J. I. Schielen
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Blood spots Galactose 1-phosphate-uridyltransferase Galactosemia Heel prick Newborn screening;
89.I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease

机译：I细胞疾病（Mucolipidosis II）：来自三级儿科中心的病例系列回顾了该疾病的气道和呼吸系统后果
- 作者：Rachel Edmiston;Stuart Wilkinson;Simon Jones;Karen Tylee;Alexander Broomfield;Iain A. Bruce
- 期刊名称：《JIMD Reports》 | 2019年第-1期
- Airway I-cell disease Inclusion cell Mucolipidosis II Respiratory disorders;
90.Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study

机译：Duarte半乳糖血症学龄儿童的发展结局：一项初步研究
- 作者：Mary Ellen Lynch;Nancy L. Potter;Claire D. Coles;Judith L. Fridovich-Keil
- 期刊名称：《JIMD Reports》 | 2015年第-1期
91.A Cause of Permanent Ketosis: GLUT-1 Deficiency

机译：永久性酮症的原因：GLUT-1缺乏
- 作者：Alexis Chenouard;Sandrine Vuillaumier-Barrot;Nathalie Seta;Alice Kuster
- 期刊名称：《JIMD Reports》 | 2015年第-1期
92.Friedreich Ataxia in Classical Galactosaemia

机译：Friedreich共济失调在经典半乳糖血症中的作用
- 作者：Siobhán Neville;Siobhan O’Sullivan;Bronagh Sweeney;Bryan Lynch;Donncha Hanrahan;Ina Knerr;Sally Ann Lynch;Ellen Crushell
- 期刊名称：《JIMD Reports》 | 2016年第-1期
93.Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease

机译：从法氏酶的酶替代疗法从阿糖苷酶阿尔法转换为阿糖苷酶β后血浆血浆globotriaosylsphingosine水平降低
- 作者：Ozlem Goker-Alpan;Michael J. Gambello;Gustavo H. B. Maegawa;Khan J. Nedd;Daniel J. Gruskin;Larry Blankstein;Neal J. Weinreb
- 期刊名称：《JIMD Reports》 | 2016年第-1期
94.Autophagy in Natural History and After ERT in Glycogenosis Type II

机译：自噬在自然历史中和在ERT后发生的糖原变性II型
- 作者：Corrado Angelini;Anna C. Nascimbeni;Marina Fanin
- 期刊名称：《JIMD Reports》 | 2015年第-1期
- Autophagy Enzyme replacement therapy Glycogenosis type 2;
95.Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency

机译：在鸟氨酸转氨甲酰酶缺乏症的青少年中从苯基丁酸钠切换为甘油苯基丁酸改善了代谢稳定性
- 作者：Alexander Laemmle;Tamar Stricker;Johannes Häberle
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Glycerol phenylbutyrate Hyperammonemia Ornithine transcarbamylase deficiency Sodium phenylbutyrate Urea cycle disorder;
96.Guanidinoacetate Methyltransferase Activity in Lymphocytes for a Fast Diagnosis

机译：胍基乙酸甲酯甲基转移酶活性在淋巴细胞中用于快速诊断
- 作者：Lisette M. Berends;Eduard A. Struys;Birthe Roos;Ulbe Holwerda;Erwin E. W. Jansen;Gajja S. Salomons;Mirjam M. C. Wamelink
- 期刊名称：《JIMD Reports》 | 2017年第-1期
- Enzyme assay GAMT LC-MS/MS Lymphocytes;
97.Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

机译：干血斑可进行有针对性的筛查以诊断粘多糖贮积病和粘脂病
- 作者：Paulina Nieves Cobos;Cordula Steglich;René Santer;Zoltan Lukacs;Andreas Gal
- 期刊名称：《JIMD Reports》 | 2015年第-1期
98.Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

机译：中链酰基辅酶A脱氢酶缺乏症的复发性室性心动过速
- 作者：P. Bala;S. Ferdinandusse;S. E. Olpin;P. Chetcuti;A. A. M. Morris
- 期刊名称：《JIMD Reports》 | 2016年第-1期
99.Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy

机译：具有错义突变的ABCD1蛋白的稳定性：一种新的方法来寻找X联肾上腺皮质营养不良症的治疗化合物。
- 作者：Masashi Morita;Shun Matsumoto;Airi Sato;Kengo Inoue;Dzmitry G. Kostsin;Kozue Yamazaki;Kosuke Kawaguchi;Nobuyuki Shimozawa;Stephan Kemp;Ronald J. Wanders;Hirotatsu Kojima;Takayoshi Okabe;Tsuneo Imanaka
- 期刊名称：《JIMD Reports》 | 2019年第-1期
- ABCD1 Bortezomib Green fluorescent protein Missense mutation X-linked adrenoleukodystrophy;
100.A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV

机译：壳三糖苷酶活性升高的罕见原因：糖原贮积病IV型
- 作者：Hayriye Hizarcioglu-Gulsen;Aysel Yuce;Zuhal Akcoren;Burcu Berberoglu-Ates;Yusuf Aydemir;Erdal Sag;Serdar Ceylaner
- 期刊名称：《JIMD Reports》 | 2006年第期