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Journal of Inherited Metabolic Disease|January 1, 1987
Purification and characterization of sialic acid containing materials accumulated in cultured skin fibroblasts from a patient with type II sialidosisJ R Scocca, G H Thomas, C Miller, et al.Journal of Inherited Metabolic Disease|January 1, 1987
Plasma amino acid values and pancreatic beta-cell function in phenylketonuriaI Antonozzi, C Carducci, L Vestri, et al.Journal of Inherited Metabolic Disease|January 1, 1987
A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuriaM Rodes, A Ribes, M Pineda, et al.Journal of Inherited Metabolic Disease|March 10, 2022
Metabolic disease in the Pacific: Lessons for indigenous populationsCallum WilsonJournal of Inherited Metabolic Disease|September 3, 1999
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysisJ Zschocke, E Quak, A Knauer, et al.Journal of Inherited Metabolic Disease|September 3, 1999
Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine diseaseP Schadewaldt, H W Hammen, A C Ott, et al.Journal of Inherited Metabolic Disease|September 3, 1999
A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidationL E Seargeant, K Balachandra, C Mallory, et al.Journal of Inherited Metabolic Disease|August 18, 2000
Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controlsJ Weglage, M Grenzebach, M Pietsch, et al.Journal of Inherited Metabolic Disease|May 11, 1999
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and surveyM Gillingham, S Van Calcar, D Ney, et al.Journal of Inherited Metabolic Disease|May 11, 1999
Glycogen storage disease type 1a in three siblings with the G270V mutationR Parvari, J Isam, S W MosesPageof 429