Congenital Ichthyosis in Severe Type II Gaucher Disease with a Homozygous Null Mutation-Reference-Cited by-同舟云学术

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Congenital Ichthyosis in Severe Type II Gaucher Disease with a Homozygous Null Mutation

Published:2011 Issue:2 Volume:100 Page:194-197
ISSN:1661-7819
Container-title:Neonatology
language:en
Short-container-title:Neonatology

Author:

Haverkaemper Sabine,Marquardt Thorsten,Hausser Ingrid,Timme Katharina,Kuehn Thomas,Hertzberg Christoph,Rossi Rainer

Publisher

S. Karger AG

Subject

Developmental Biology,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Lysosomal Storage Disorders in the Newborn

2. Collodion babies with Gaucher's disease.

3. Human Epidermal Glucosylceramides are Major Precursors of Stratum Corneum Ceramides

4. β-Glucocerebrosidase activity in mammalian stratum corneum

5. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.

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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. Skin Conditions and Movement Disorders: Hiding in Plain Sight;Movement Disorders Clinical Practice;2022-03-24

3. A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation;Metabolic Brain Disease;2022-03-07

4. Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis;J PEDIATR NEONATAL I;2019

5. Induced Pluripotent Stem Cell Modeling of Gaucher’s Disease: What Have We Learned?;International Journal of Molecular Sciences;2017-04-21

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