Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a re...
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time course of symptoms, and the clinical diagnostic work-up in the Swiss NP-C cohort.
Clinical, biochemical and genetic data were assessed for 14 p...
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Full title
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4253629
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4253629
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-014-0176-7
