Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

Background: NiemannPick (NP) disease is a genetically heterogeneous metabolic disorder caused by bi-allelic variants in NPC1, NPC2, or SMPD1, with initial symptoms and age at onset varying widely. The interpretation of variants in NP disease genes is challenging when these alterations have never bee...

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Bibliographic Details
Main Authors: Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2019-12-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
biomarker
enzymatic testing
niemannpick disease
smpd1
variant classification
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=55059

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http://www.ejmanager.com/fulltextpdf.php?mno=55059

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