Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients
about
Molecular Cloning of the Acid Sphingomyelinase of the Mouse and the Organization and Complete Nucleotide Sequence of the GeneNiemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patientsMucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase geneThe structure and catalytic mechanism of human sphingomyelin phosphodiesterase like 3a--an acid sphingomyelinase homologue with a novel nucleotide hydrolase activityCharacterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse modelsGlycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studiesCell biology. Metabolic control of cell deathDevelopmentally regulated sphingolipid degradation in Leishmania majorNiemann-Pick disease type C: two cases and an update.Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.Carrier testing for autosomal-recessive disorders.Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase geneMolecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick diseaseIdentification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.The polymerase chain reaction in histopathology.Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cellsThe demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.My journey into the world of sphingolipids and sphingolipidoses.SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.Occurrence of two molecular forms of human acid sphingomyelinase.Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report
P2860
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P2860
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients
description
1991 nî lūn-bûn
@nan
1991 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@ast
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@en
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@nl
type
label
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@ast
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@en
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@nl
prefLabel
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@ast
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@en
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@nl
P2093
P2860
P356
P1476
Niemann-Pick disease: a freque ...... i Jewish type A and B patients
@en
P2093
E H Schuchman
R J Desnick
P2860
P304
P356
10.1073/PNAS.88.9.3748
P407
P577
1991-05-01T00:00:00Z