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- W575175220 abstract "Komrower Lecture: Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome G. Salen, et al. Genetic screening, testing and treatment: how far can we go? C.R. Scriver. Somatic gene therapy for phenylketonuria and other hepatic deficiencies R.C. Eisensmith, S.L.C. Woo. Ethical reflections concerning genetic services. A paradigm for the future? C. Alonso. Metabolic fuel utilization and pyruvate oxidation during the postnatal period J.M. Medina, et al. Regulation and function of the mitochondrial genome S. Jeong-Yu, D.A. Clayton. Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex B.H. Robinson, et al. Disorders of the electron transport chain P.L. Adams, D.M. Turnbull. Disorders of gluconeogenesis G. van den Berghe. Metabolic intermediates in lactic acidosis: compounds, samples and interpretation F. Poggi-Travert, et al. Mitochondrial encephalomyopathies: what next? S. DiMauro. Neurological presentations of mitochondrial diseases M. Zeviani, et al. Clinical presentation of mitochondrial disorders in childhood A. Munnich, et al. Morphological studies of skeletal muscle in lactic acidosis N.B. Romero, et al. Magnetic resonance imaging in lactic acidosis M.S. van der Knaap, et al. The role of magnetic resonance spectroscopy in the investigation of lactic acidosis and inborn errors of energy metabolism D.G. Gadian, J.V. Leonard. Neuropathology and pathogenesis of mitochondrial diseases G.K. Brown, M.V. Squier. The treatment of congenital lactic acidosis A.A.M. Morris, J.V. Leonard. Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism W. Ruitenbeek, et al." @default.
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- W575175220 title "Review issue lactic acidosis and energy metabolism" @default.
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