Broad clinical and laboratory spectrum found in 9 Niemann-Pick disease type C Southern Brazilian patients

Moura de Souza Carolina Fischinger; Donis Karina Carvalho; Saute Jonas; Vairo Filippo; Timm Fernanda; Saraiva-Pereira Maria Luiza; Gil Mirela; Bonato Marcia Polese; Giugliani Roberto

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Broad clinical and laboratory spectrum found in 9 Niemann-Pick disease type C Southern Brazilian patients

机译：在巴西南部的9位尼曼-匹克病C型患者中发现了广泛的临床和实验室光谱

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《Molecular genetics and metabolism》 |2015年第2期|共1页
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Moura de Souza Carolina Fischinger; Donis Karina Carvalho; Saute Jonas; Vairo Filippo; Timm Fernanda; Saraiva-Pereira Maria Luiza; Gil Mirela; Bonato Marcia Polese; Giugliani Roberto;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. Broad clinical and laboratory spectrum found in 9 Niemann-Pick disease type C Southern Brazilian patients [J] . Moura de Souza Carolina Fischinger, Donis Karina Carvalho, Saute Jonas, Molecular genetics and metabolism . 2015,第2期

机译：在巴西南部的9位尼曼-匹克病C型患者中发现了广泛的临床和实验室光谱
2. Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat [J] . Giugliani Luciana, Van der Linder Vanesa, Van Der Linden Junior Helio, Molecular genetics and metabolism . 2016,第2期

机译：巴西尼曼匹克病（C型）患者的病程和生存：米格司他潜在影响的初步数据
3. Niemann-Pick Disease Type A and B are Clinically but also Enzymatically Heterogeneous: Pitfall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the Mutation Q292 K. [J] . Harzer K, Rolfs A, Bauer P, Neuropediatrics . 2003,第6期

机译：Niemann-Pick疾病A型和B型在临床上和酶学上都是异质的：与Q292 K突变相关的鞘磷脂酶缺乏症的实验室诊断存在陷阱。
4. Application of Mobile Games to Support Clinical Data Collection for Patients with Niemann-Pick Disease [C] . Sinnott Richard O., Jun Han, Hu William, IEEE International symposium on computer-based medical systems . 2015

机译：手机游戏在尼曼-皮克病患者临床数据支持中的应用
5. Biosynthetic Access to the GEX1A Scaffold: A Novel Therapeutic Approach for Niemann-Pick Type C Disease [D] . Granatosky, Eve A. 2018

机译：生物合成进入GEX1A脚手架：一种新的Niemann-PICK型C病治疗方法
6. Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review [O] . Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, 2019

机译：在临床实践中评估不同可疑指数以鉴定C型尼曼-皮克病患者：回顾性图表回顾的事后分析
7. International Consensus on Clinical Severity Scale Use in Evaluating Niemann-pick Disease Type C in Paediatric and Adult Patients: Results From a Delphi Study [O] . William Evans, Marc Patterson, Frances Platt, 2021

机译：关于评估尼马曼患病患者的临床严重程度规模的国际共识：Delphi研究的结果

Broad clinical and laboratory spectrum found in 9 Niemann-Pick disease type C Southern Brazilian patients

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