Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease-Reference-Cited by-同舟云学术

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Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease

Published:2023-05 Issue:1 Volume:139 Page:107563
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Oliva Petra,Schwarz Markus,Mechtler Thomas P.,Sansen Stefaan,Keutzer Joan,Prusa Andrea-Romana,Streubel Berthold,Kasper David C.

Funder

Medizinische Universität Wien

Publisher

Elsevier BV

Subject

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

Reference21 articles.

1. Types A and B Niemann-Pick disease;Schuchman;Mol. Genet. Metab.,2017

2. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD);McGovern;Orphanet J. Rare Dis.,2017

3. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1–p15.4;da Veiga Pereira;Genomics.,1991

4. SMPD1 mutation update: database and comprehensive analysis of published and novel variants;Zampieri;Hum. Mutat.,2016

5. Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective;Pokrzywinski;Sci. Rep.,2021

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. Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis;Journal of Clinical Medicine;2024-03-05

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