Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency-Reference-Cited by-同舟云学术

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Published:2017-09 Issue:9 Volume:19 Page:967-974
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

McGovern Margaret M.,Dionisi-Vici Carlo,Giugliani Roberto,Hwu Paul,Lidove Olivier,Lukacs Zoltan,Eugen Mengel Karl,Mistry Pramod K.,Schuchman Edward H.,Wasserstein Melissa P.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim20177.pdf

Reference40 articles.

1. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies;Schuchman,2013

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1. Acid sphingomyelinase deficiency in France: a retrospective survival study;Orphanet Journal of Rare Diseases;2024-08-05

2. Maladies de Niemann-Pick ou déficits en sphingomyélinase acide (ASMD) : présentations cliniques, actualités thérapeutiques et perspectives;La Revue de Médecine Interne;2024-06

3. A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany;Orphanet Journal of Rare Diseases;2024-04-13

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

5. Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study;Molecular Genetics and Metabolism Reports;2024-03

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