Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan-Reference-Cited by-同舟云学术

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Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan

Published:2018-02 Issue:2 Volume:123 Page:140-147
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Liao Hsuan-Chieh,Hsu Ting-Rong,Young Leslie,Chiang Chuan-Chi,Huang Chun-Kai,Liu Hao-Chuan,Niu Dau-Ming,Chen Yann-Jang

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy;Desnick;Ann. Intern. Med.,2003

2. Natural history of Fabry disease in females in the Fabry Outcome Survey;Deegan;J. Med. Genet.,2006

3. Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy;Desnick;Contrib. Nephrol.,2001

4. An atypical variant of Fabry's disease in men with left ventricular hypertrophy;Nakao;N. Engl. J. Med.,1995

5. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype;Nakao;Kidney Int.,2003

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China;Clinica Chimica Acta;2024-04

2. On the way to early diagnosis;European Journal of Paediatric Neurology;2024-01

3. Newborn Screening for Fabry Disease: Current Status of Knowledge;International Journal of Neonatal Screening;2023-06-05

4. All reported non-canonical splice site variants in GLA cause aberrant splicing;Clinical and Experimental Nephrology;2023-05-31

5. Challenges in Fabry disease: the combination of two individually amenable GLA variants may be nonamenable to migalastat;Future Cardiology;2023-01

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