caa a22 4500 469045086 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920901xx s 000 0 eng 10.1007/BF01800009 doi (NATIONALLICENCE)springer-10.1007/BF01800009 Investigation of enzyme defects in children with lactic acidosis [Elektronische Daten] [B. Merinero, C. Pérez-Cerda, M. Ugarte] Summary: Screening for enzyme deficiencies was carried out in cultured skin fibroblasts and leukocytes of 19 patients with lactic acidosis and neurological problems. Pyruvate carboxylase deficiency was demonstrated in three cases. Reduced pyruvate oxidation was found in seven cultures; six showed no significant stimulation of the oxidation rate by methylene blue and in three a decreased pyruvate dehydrogenase complex activity was confirmed. Methylene blue restored a near normal oxidation rate in the seventh culture which had decreased cytochromec oxidase activity. SSIEM and Kluwer Academic Publishers, 1992 Merinero B. Department of Molecular Biology, Universidad Autónoma de Madrid, 28049, Madrid, Spain aut Pérez-Cerda C. Department of Molecular Biology, Universidad Autónoma de Madrid, 28049, Madrid, Spain aut Ugarte M. Department of Molecular Biology, Universidad Autónoma de Madrid, 28049, Madrid, Spain aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 696-706 0141-8955 15:5<696 1992 15 10545 https://doi.org/10.1007/BF01800009 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800009 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Merinero B. Department of Molecular Biology, Universidad Autónoma de Madrid, 28049, Madrid, Spain aut NATIONALLICENCE 700 1- Pérez-Cerda C. Department of Molecular Biology, Universidad Autónoma de Madrid, 28049, Madrid, Spain aut NATIONALLICENCE 700 1- Ugarte M. Department of Molecular Biology, Universidad Autónoma de Madrid, 28049, Madrid, Spain aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 696-706 0141-8955 15:5<696 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer