Type 2 Gaucher Disease: An Expanding Phenotype-Reference-Cited by-同舟云学术

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Type 2 Gaucher Disease: An Expanding Phenotype

Published:1999-10 Issue:2 Volume:68 Page:209-219
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tayebi Nahid,Stone Deborah L.,Sidransky Ellen

Publisher

Elsevier BV

Subject

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

Reference80 articles.

1. Gaucher disease;Beutler,1995

2. Glucosylceramide lipidoses: Gaucher's disease;Frederickson,1972

3. New perspectives in type 2 Gaucher disease;Sidransky;Adv in Pediatr,1997

4. Ocular motor signs in some metabolic diseases;Cogan;Arch Ophthalmol,1981

5. Collodion babies with Gauchers disease;Liu;Arch Dis Child,1988

Cited by 38 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. The ovine Type II Gaucher disease model recapitulates aspects of human brain disease.;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2023-04

2. Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesis;The FEBS Journal;2020-08-07

3. The natural history of type 2 Gaucher disease in the 21st century;Neurology;2020-08-06

4. A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations;Frontiers in Pediatrics;2019-05-22

5. Ichthyosis in a Child with Organomegaly;Challenging Cases in Dermatology Volume 2;2019

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