Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
about
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher diseaseThe clinical management of Type 2 Gaucher diseaseGlucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseConsequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher diseaseMice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedureGaucher's disease: a paradigm for interventional genetics.Gaucher disease plus.Coexistence of Gaucher disease type 1 and Joubert syndromeThe clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.Gaucher disease: insights from a rare Mendelian disorder.Glucosylceramides stimulate murine epidermal hyperproliferation.Sphingolipid activator proteins: proteins with complex functions in lipid degradation and skin biogenesis.Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Type 2 Gaucher disease: the collodion baby phenotype revisited.Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3.Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.Lysosomal storage disorders in the newborn.Animal models for Gaucher disease research.Gaucher disease paradigm: from ERAD to comorbidity.My journey into the world of sphingolipids and sphingolipidoses.The chemistry and biology of 6-hydroxyceramide, the youngest member of the human sphingolipid family.Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.Intracellular metabolite β-glucosylceramide is an endogenous Mincle ligand possessing immunostimulatory activity.Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.The Spectrum of Neurological Manifestations Associated with Gaucher Disease.Induction of ceramide glucosyltransferase activity in cultured human keratinocytes. Correlation with culture differentiation.Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease
P2860
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P2860
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Gaucher disease in the neonate ...... f the glucocerebrosidase gene.
@ast
Gaucher disease in the neonate ...... f the glucocerebrosidase gene.
@en
type
label
Gaucher disease in the neonate ...... f the glucocerebrosidase gene.
@ast
Gaucher disease in the neonate ...... f the glucocerebrosidase gene.
@en
prefLabel
Gaucher disease in the neonate ...... f the glucocerebrosidase gene.
@ast
Gaucher disease in the neonate ...... f the glucocerebrosidase gene.
@en
P2093
P1433
P1476
Gaucher disease in the neonate ...... f the glucocerebrosidase gene.
@en
P2093
P304
P356
10.1203/00006450-199210000-00023
P407
P577
1992-10-01T00:00:00Z
P5875
P6179
1023892703