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

Molecular Genetics and Metabolism

Nov 1, 2009

James Ed WraithFrédéric Sedel

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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

Neurologic Symptoms
Niemann-Pick Disease, Type C
Disability Evaluation
Opitz Trigonocephaly Syndrome
Subgroup A Nepoviruses
Niemann-Pick Disease, Type C1
Argynnis pandora
Ambulation
Neurologic Manifestations
Sketetal Dysplasia Coarse Facies Mental Retardation
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  • Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

    Molecular Genetics and Metabolism

    Nov 1, 2009

    James Ed WraithFrédéric 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

    Neurologic Symptoms
    Niemann-Pick Disease, Type C
    Disability Evaluation
    Opitz Trigonocephaly Syndrome
    Subgroup A Nepoviruses

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