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Journal of Inherited Metabolic Disease|January 1, 1986
Human biochemical genetics of enzyme proteins in the new age of molecular geneticsD M Swallow, D A HopkinsonJournal of Inherited Metabolic Disease|January 1, 1987
Registers for inherited metabolic diseasesJ B HoltonJournal of Inherited Metabolic Disease|January 1, 1987
Primary hyperoxaluria type I: ultrastructural observations in liver biopsiesT C Iancu, C J DanpureJournal of Inherited Metabolic Disease|January 1, 1987
Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidationG K Brown, C H Cromby, N J Manning, et al.Journal of Inherited Metabolic Disease|January 1, 1988
The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolitesR A Harkness, P Purkiss, S Duffy, et al.Journal of Inherited Metabolic Disease|October 6, 2021
A simple mechanistic explanation for Barth syndrome and cardiolipin remodelingYang Xu, Colin K L Phoon, Mindong Ren, et al.Journal of Inherited Metabolic Disease|March 13, 2022
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, et al.Journal of Inherited Metabolic Disease|March 4, 2022
Delineating the epilepsy phenotype of NGLY1 deficiencyRebecca J Levy, Christina H Frater, William B Gallentine, et al.Journal of Inherited Metabolic Disease|January 1, 1986
Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiencyS Krywawych, G Katz, A M Lawson, et al.Journal of Inherited Metabolic Disease|February 4, 2010
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiencyHidde H Huidekoper, Gepke Visser, Mariëtte T Ackermans, et al.Pageof 429