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Journal of Inherited Metabolic Disease|January 1, 1991
Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: aberrant subcellular localization in Zellweger syndromeC W van Roermund, S Brul, J M Tager, et al.Journal of Inherited Metabolic Disease|July 11, 2006
Newborn screening may fail to identify intermediate forms of maple syrup urine diseaseK Bhattacharya, V Khalili, V Wiley, et al.Journal of Inherited Metabolic Disease|June 1, 2006
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduriaGabriella Di Rosa, Federica Deodato, Ference J Loupatty, et al.Journal of Inherited Metabolic Disease|June 1, 2006
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiencyNi-Chung Lee, Yin-Hsiu Chien, Keiko Kobayashi, et al.Journal of Inherited Metabolic Disease|May 29, 2007
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intoleranceM A Benninga, M Lilien, T J de Koning, et al.Journal of Inherited Metabolic Disease|May 17, 2007
Newborn screening for cystic fibrosis: techniques and strategiesBridget WilckenJournal of Inherited Metabolic Disease|May 18, 2007
Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > GR Pettman, T Hurley, J Addis, et al.Journal of Inherited Metabolic Disease|January 24, 2007
Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency statesA A J Lam, K Hyland, S J R HealesJournal of Inherited Metabolic Disease|April 13, 2007
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegenerationY M Kuo, S J Hayflick, J GitschierJournal of Inherited Metabolic Disease|April 14, 2007
Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trialB Koletzko, T Sauerwald, H Demmelmair, et al.Pageof 429