Type 2 Gaucher disease: the collodion baby phenotype revisited.
about
Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismThe clinical management of Type 2 Gaucher diseaseCase report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapyCare of the newborn with ichthyosis.A reappraisal of Gaucher disease-diagnosis and disease management algorithms.A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Variants associated with Gaucher disease in multiple system atrophy.Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.Neuropathic Gaucher disease.Recognition and diagnosis of neuro-ichthyotic syndromes.Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.In situ visualization of glucocerebrosidase in human skin tissue: zymography versus activity-based probe labeling.Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions.Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.Gaucher diseaseDisorders of Keratinization
P2860
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P2860
Type 2 Gaucher disease: the collodion baby phenotype revisited.
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
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2000 թվականի մարտին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Type 2 Gaucher disease: the collodion baby phenotype revisited.
@ast
Type 2 Gaucher disease: the collodion baby phenotype revisited.
@en
type
label
Type 2 Gaucher disease: the collodion baby phenotype revisited.
@ast
Type 2 Gaucher disease: the collodion baby phenotype revisited.
@en
prefLabel
Type 2 Gaucher disease: the collodion baby phenotype revisited.
@ast
Type 2 Gaucher disease: the collodion baby phenotype revisited.
@en
P2093
P2860
P356
P1476
Type 2 Gaucher disease: the collodion baby phenotype revisited.
@en
P2093
Callahan M
Christodoulou J
Sidransky E
Sillence D
P2860
P304
P356
10.1136/FN.82.2.F163
P577
2000-03-01T00:00:00Z