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Jecel, Julia; Harzer, Klaus; Paschke, Eduard; Beck-Wödl, Stefanie; Bauer, Peter; Hejtman, Milos; Katzenschlager, Regina

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, OverexpressedNPC1Allele

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  • Media type: E-Article
  • Title: Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, OverexpressedNPC1Allele
  • Contributor: Jecel, Julia; Harzer, Klaus; Paschke, Eduard; Beck-Wödl, Stefanie; Bauer, Peter; Hejtman, Milos; Katzenschlager, Regina
  • imprint: FapUNIFESP (SciELO), 2015
  • Published in: Journal of Inborn Errors of Metabolism and Screening
  • Language: English
  • DOI: 10.1177/2326409815618979
  • ISSN: 2326-4098; 2326-4594
  • Keywords: Genetics (clinical) ; Endocrinology, Diabetes and Metabolism ; Pediatrics, Perinatology and Child Health
  • Origination:
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  • Access State: Open Access