Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: A congenital disorder of glycosylation mimicking glycogen storage disease

Title
Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: A congenital disorder of glycosylation mimicking glycogen storage disease
Authors
Keywords
Congenital disorders of glycosylation, PMM2, Inherited metabolic diseases, Whole-exome sequencing, Genetic diagnosis
Journal
CLINICA CHIMICA ACTA
Volume 444, Issue -, Pages 50-53
Publisher
Elsevier BV
Online
2015-02-12
DOI
10.1016/j.cca.2015.02.008

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