Niemann–Pick disease
Por um escritor misterioso
Descrição
Niemann–Pick disease is a form of sphingolipidosis, a lysosomal storage diseases. In patients with this disorder, the sphinogolipid is stored is smal

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann–Pick disease type C1

Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals - Top Articles selected by the Editor - Molecular Genetics and Metabolism Reports - Journal - Elsevier

IJMS, Free Full-Text

Adult Onset Niemann-Pick type C (NPC) – NNPDF

Niemann-Pick Disease, Types C1 (D)

Niemann Pick Disease - an overview

Parents of kids with Niemann Pick C advocate for adrabetadex

Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A Case Report and Review of Literature

The pathogenesis of Niemann–Pick type C disease: a role for autophagy?, Expert Reviews in Molecular Medicine
Morphology of Niemann-Pick type A metabolic storage disorder

Consensus clinical management guidelines for Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Experimental treatment for Niemann-Pick disease appears safe

JCM, Free Full-Text
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