A novel α-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease-Reference-Cited by-同舟云学术

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A novel α-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease

Published:2004-11 Issue:5 Volume:44 Page:e85-e89
ISSN:0272-6386
Container-title:American Journal of Kidney Diseases
language:en
Short-container-title:American Journal of Kidney Diseases

Author:

Rosenthal David,Lien Yeong-Hau H.,Lager Donna,Lai Li-Wen,Shang Shuhua,Leung Nelson,Fervenza Fernando C.

Publisher

Elsevier BV

Subject

Nephrology

Cited by 11 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. Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease;Orphanet Journal of Rare Diseases;2022-06-20

2. Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report;BMC Nephrology;2020-08-13

3. Fabry disease: α-galactosidase A deficiency;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

4. A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells;Internal Medicine;2016

5. Fabry Disease;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015

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