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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Molecular Genetics and Metabolism

Jul 21, 2009

James E WraithFrederic Sedel

Abstract

Niemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by progressive neurological deterioration. However, data on the progression of neurological manifestations, particularly across different patient age-of-disease onsets, are limited. This is an observation...read more

Mentioned in this Paper

Deglutition
Niemann-Pick Disease, Type C
Neurologic Manifestations
Incidence Studies
Disability Evaluation
Birth
Observation - Diagnostic Procedure
Rare Diseases
Subgroup A Nepoviruses
Hereditary Diseases
Paper Details
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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

Molecular Genetics and Metabolism

Jul 21, 2009

James E WraithFrederic Sedel

PMID: 19616462

DOI: 10.1016/j.ymgme.2009.06.009

Abstract

Niemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by progressive neurological deterioration. However, data on the progression of neurological manifestations, particularly across different patient age-of-disease onsets, are limited. This is an observation...read more

Mentioned in this Paper

Deglutition
Niemann-Pick Disease, Type C
Neurologic Manifestations
Incidence Studies
Disability Evaluation
Birth
Observation - Diagnostic Procedure
Rare Diseases
Subgroup A Nepoviruses
Hereditary Diseases

Trending Feeds

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

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Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

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James E WraithMarc C Patterson
Paper Details
References
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  • Citations35
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