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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Genetics in Medicine : Official Journal of the American College of Medical Genetics

Mar 13, 2015

Christopher A WassifForbes D Porter

Abstract

Niemann-Pick disease type C (NPC) is a recessive, neurodegenerative, lysosomal storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is difficult and frequently delayed. Ascertainment is likely incomplete because of both these factors and because the full phenotypic ...read more

Mentioned in this Paper

Visceral
Nasopharyngeal Carcinoma
Niemann-Pick Disease, Type C
Oxidoreductases Acting on CH-CH Group Donors
Pathogenic Organism
Medical Genetics Specialty
Genetic Screening Method
NPC1 protein, human
NPC2 gene
Parallel Study
5
1
78
1
Paper Details
References
  • References37
  • Citations39
1234
  • References37
  • Citations39
1234

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Genetics in Medicine : Official Journal of the American College of Medical Genetics

Mar 13, 2015

Christopher A WassifForbes D Porter

PMID: 25764212

DOI: 10.1038/gim.2015.25

Abstract

Niemann-Pick disease type C (NPC) is a recessive, neurodegenerative, lysosomal storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is difficult and frequently delayed. Ascertainment is likely incomplete because of both these factors and because the full phenotypic ...read more

Mentioned in this Paper

Visceral
Nasopharyngeal Carcinoma
Niemann-Pick Disease, Type C
Oxidoreductases Acting on CH-CH Group Donors
Pathogenic Organism
Medical Genetics Specialty
Genetic Screening Method
NPC1 protein, human
NPC2 gene
Parallel Study
5
1
78
1

Feeds With Similar Papers

Comparative Sequencing

Inter/Intra-Species: Comparative Sequencing describes the sequencing techniques that compare between and within species genomes. Discover the latest research on comparative sequencing of inter/intra-species here.

Lysosomal Storage Disease

Lysosomal storage diseases and related disorders are a heterogeneous group of rare diseases caused by genetic mutations that result in deficiencies of specific lysosomal enzymes. Here is the latest research on lysosomal storage diseases.

Related Papers

World Journal of Pediatrics : WJP

Niemann-Pick disease type C: analysis of 7 patients

World Journal of Pediatrics : WJPJune 3, 2011
Hui XiongXi-Ru Wu
Molecular Genetics and Metabolism

The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear

Molecular Genetics and MetabolismSeptember 5, 2013
Ayumi TakamuraYoshikatsu Eto
Paper Details
References
  • References37
  • Citations39
1234
  • References37
  • Citations39
1234

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