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Journal of Inherited Metabolic Disease|January 1, 1988
Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three familiesP R Clements, J A Taylor, J J HopwoodJournal of Inherited Metabolic Disease|January 1, 1986
Clinical aspects of congenital adrenal hyperplasia: early diagnosis and prognosisI A HughesJournal of Inherited Metabolic Disease|January 1, 1986
Biochemical aspects of congenital adrenal hyperplasiaJ HonourJournal of Inherited Metabolic Disease|September 1, 2018
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG diseaseA Papandreou, S Rahman, C Fratter, et al.Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.Journal of Inherited Metabolic Disease|April 27, 2019
Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosomeAbhilash P Appu, Maria B Bagh, Tamal Sadhukhan, et al.Journal of Inherited Metabolic Disease|January 1, 1986
Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the diseaseR J Wanders, Y R Purvis, H S Heymans, et al.Journal of Inherited Metabolic Disease|July 22, 2018
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statinsJudit Núñez-Manchón, Alfonsina Ballester-Lopez, Emma Koehorst, et al.Journal of Inherited Metabolic Disease|July 26, 2018
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapyElizabeth D Brooks, Dustin J Landau, Jeffrey I Everitt, et al.Journal of Inherited Metabolic Disease|July 26, 2018
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathyCurtis R Coughlin, Michael A Swanson, Elaine Spector, et al.Pageof 429