Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
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Phenotypical variation within 22 families with Pompe disease.The emerging phenotype of long-term survivors with infantile Pompe disease.GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidaseDiscovery of a novel noniminosugar acid α glucosidase chaperone series.Pompe disease diagnosis and management guideline.Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatmentA cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe DiseaseDiagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencingNewborn screening for lysosomal storage disorders in hungary.A review of treatment of Pompe disease in infantsA new resorufin-based alpha-glucosidase assay for high-throughput screening.The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.The genotype-phenotype correlation in Pompe disease.Genetics and metabolic cardiomyopathies.Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.Ethical considerations of population screening for late-onset genetic disease.Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblastsSplicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.Toward deconstructing the phenotype of late-onset Pompe disease.Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.The investigation and management of metabolic myopathies.Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.Ventricular fibrillation in a patient with Pompe disease: a cautionary tale.Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.Stabilising normal and mis-sense variant alpha-glucosidase.Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.Glycogen storage diseases: Diagnosis, treatment and outcomeAdult-onset glycogen storage disease type 2: clinico-pathological phenotype revisitedEffects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study
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P2860
Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
description
article
@en
im Jahr 2004 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у 2003
@uk
ലേഖനം
@ml
name
Twenty-two novel mutations in ...... ycogen storage disease type II
@en
Twenty-two novel mutations in the lysosomal ?-glucosidase gene
@nl
type
label
Twenty-two novel mutations in ...... ycogen storage disease type II
@en
Twenty-two novel mutations in the lysosomal ?-glucosidase gene
@nl
prefLabel
Twenty-two novel mutations in ...... ycogen storage disease type II
@en
Twenty-two novel mutations in the lysosomal ?-glucosidase gene
@nl
P2093
P2860
P50
P356
P1433
P1476
Twenty-two novel mutations in ...... ycogen storage disease type II
@en
P2093
Ans T Van Der Ploeg
Arnold J J Reuser
Clare E Beesley
Dik van Leenen
Guy Besley
Helen Michelakakis
Hitoshi Sakuraba
Janice Fletcher
Marian A Kroos
Monique M P Hermans
P2860
P356
10.1002/HUMU.10286
P577
2004-01-01T00:00:00Z