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Journal of Inherited Metabolic Disease|August 5, 2016
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patientsH Rosewich, P Dechent, C Krause, et al.Journal of Inherited Metabolic Disease|August 27, 2025
Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic ReviewMarta Gil-González, Carolina Arias, Jean-Marie Saudubray, et al.Journal of Inherited Metabolic Disease|August 31, 2025
Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor DeficiencyB C Schwahn, R Sinha, J A M Wright, et al.Journal of Inherited Metabolic Disease|October 26, 2019
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsyAdrian R Laciak, David A Korasick, Kent S Gates, et al.Journal of Inherited Metabolic Disease|June 13, 2015
Concomitant immune-related events in Wilson disease: implications for monitoring chelator therapyJessica Seessle, Daniel Nils Gotthardt, Mark Schäfer, et al.Journal of Inherited Metabolic Disease|June 26, 2015
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrateFatima Djouadi, Florence Habarou, Carole Le Bachelier, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydesR J Pollitt, A Green, R SmithJournal of Inherited Metabolic Disease|January 1, 1985
Pipecolic acid levels in serum and urine from neonates and normal infants: comparison with values reported in Zellweger syndromeL Govaerts, F Trijbels, L Monnens, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblastsK M Gibson, L Sweetman, W L Nyhan, et al.Journal of Inherited Metabolic Disease|January 1, 1985
Successful adjustment to society by adults with phenylketonuriaR Koch, M Yusin, K FishlerPageof 429