Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease-Reference-Cited by-同舟云学术

Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

Published:2021-07-26 Issue:1 Volume:62 Page:15-21
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Eskes Eline C. B.¹^ORCID,Lienden Martijn J. C.¹²,Roelofs Joris J. T. H.²³,Vogt Liffert³,Aerts Johannes M. F. G.⁴,Aten Jan²,Hollak Carla E. M.¹

Affiliation:

1. Department of Endocrinology and Metabolism Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

2. Department of Pathology Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

3. Amsterdam UMC, Amsterdam Cardiovascular Sciences Department of Internal Medicine, section Nephrology, University of Amsterdam Amsterdam The Netherlands

4. Leiden Institute of Chemistry, Department of Medical Biochemistry University of Leiden Leiden The Netherlands

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12242

Reference45 articles.

1. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.

2. Prevalence of Lysosomal Storage Disorders

3. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

4. The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study

5. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Cited by 1 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. Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria;Journal of Inherited Metabolic Disease;2024-08-23