Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
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High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher diseaseA glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorderIdentification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher diseaseGaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase geneHigh frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi JewsDental profile of patients with Gaucher diseaseSystemic AL amyloidosis in Gaucher disease. A case report and review of the literatureDetection of genomic rearrangements from targeted resequencing data in Parkinson's disease patientsWithdrawal of enzyme replacement therapy in Gaucher's disease.Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients.Factors influencing the measurement of lysosomal enzymes activity in human cerebrospinal fluidNon-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.Enzyme replacement therapy for Gaucher's disease: the early Canadian experience.Production of human glucocerebrosidase in mice after retroviral gene transfer into multipotential hematopoietic progenitor cells.Gaucher disease: pathological mechanisms and modern management.Response of Gaucher bone disease to enzyme replacement therapy.Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patientsGaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.Complex alleles of the acid beta-glucosidase gene in Gaucher disease.A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3)Gaucher disease as a paradigm of current issues regarding single gene mutations of humansThe prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher diseaseGaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Acquired pseudo-pseudo Bernard-Soulier syndrome complicating Gaucher's diseaseIdentification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous stateA new framework for evaluating the health impacts of treatment for Gaucher disease type 1.Mutations in GBA and risk of Parkinson's disease: a meta-analysis based on 25 case-control studies.Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.A disease severity scoring system for children with type 1 Gaucher disease.Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.Mutation analysis in 46 British and Irish patients with Gaucher's disease.2,3-di-O-tetradecyl-1-O-(beta-D-glucopyranosyl)-sn-glycerol is a substrate for human glucocerebrosidase.Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease.
P2860
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P2860
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh-hant
name
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
@en
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
@nl
type
label
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
@en
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
@nl
prefLabel
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
@en
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
@nl
P2093
P1433
P1476
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
@en
P2093
P304
P356
10.1016/S0140-6736(89)90536-9
P407
P577
1989-08-01T00:00:00Z