Molecular Genetics and Metabolism Reports - Volume 17 

Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry

Fulltext Access 7 Pages 2018

Metallosis mimicking a metabolic disorder: a case report

Fulltext Access 4 Pages 2018

Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong

Fulltext Access 6 Pages 2018

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Fulltext Access 9 Pages 2018

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Fulltext Access 7 Pages 2018

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine

Fulltext Access 7 Pages 2018