The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. - Wikidata - wikimedia - TriplyDB

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

http://www.wikidata.org/entity/Q37204194

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The structure and catalytic mechanism of human sphingomyelin phosphodiesterase like 3a--an acid sphingomyelinase homologue with a novel nucleotide hydrolase activity Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models Functional implications of novel human acid sphingomyelinase splice variants Identification and biochemical characterization of an acid sphingomyelinase-like protein from the bacterial plant pathogen Ralstonia solanacearum that hydrolyzes ATP to AMP but not sphingomyelin to ceramide Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol.Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing.Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.Multivesicular bodies in neurons: distribution, protein content, and trafficking functions.A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.Alternative splicing of SMPD1 in human sepsis.Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity.Newborn screening for lysosomal storage disorders in hungary.Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)The role of sphingolipids in respiratory disease.Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry.A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase.A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients Sphingolipids in the lungs.Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.Types A and B Niemann-Pick disease.

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The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

http://www.wikidata.org/entity/Q37204194

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article científic

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article scientifique

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articolo scientifico

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bilimsel makale

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scientific article published on 04 October 2002

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vedecký článok

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vetenskaplig artikel

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vědecký článek

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The demographics and distribut ...... notype/phenotype correlations.

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The demographics and distribut ...... notype/phenotype correlations.

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The demographics and distribut ...... notype/phenotype correlations.

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The demographics and distribut ...... notype/phenotype correlations.

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The demographics and distribut ...... notype/phenotype correlations.

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The demographics and distribut ...... notype/phenotype correlations.

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American Journal of Human Genetics

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The demographics and distribut ...... notype/phenotype correlations.

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Calogera M Simonaro

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Edward H Schuchman

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Margaret M McGovern

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Melissa P Wasserstein

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Robert J Desnick

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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

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs

Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease

Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms

Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X

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