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Journal of Inherited Metabolic Disease|January 7, 2004
Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopyJ Pietz, T Lutz, K Zwygart, et al.Journal of Inherited Metabolic Disease|January 7, 2004
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type IC Mühlhausen, E Christensen, M Schwartz, et al.Journal of Inherited Metabolic Disease|January 7, 2004
Tall stature and progressive overweight in mitochondrial encephalopathyE Morava, F A Hol, A Janssen, et al.Journal of Inherited Metabolic Disease|July 2, 2019
Chronic liver involvement in urea cycle disordersGiusy Ranucci, Miriam Rigoldi, Giovanna Cotugno, et al.Journal of Inherited Metabolic Disease|July 2, 2019
Liver neoplasms in methylmalonic aciduria: An emerging complicationPatrick Forny, Michel Hochuli, Yusof Rahman, et al.Journal of Inherited Metabolic Disease|July 4, 2019
Neuropsychological attributes of urea cycle disorders: A systematic review of the literatureSusan E Waisbren, Arianna K Stefanatos, Teresa M Y Kok, et al.Journal of Inherited Metabolic Disease|June 22, 2019
Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosisMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.Journal of Inherited Metabolic Disease|January 1, 1987
Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type CC Mazière, J C Mazière, L Mora, et al.Journal of Inherited Metabolic Disease|January 1, 1987
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiencyG K Brown, R D Scholem, S M Hunt, et al.Journal of Inherited Metabolic Disease|January 1, 1987
Increased urinary excretion of putrescine in hyperargininaemiaT Kato, M Sano, N Mizutani, et al.Pageof 429