caa a22 4500 467932727 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0188-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0188-0 Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke [Elektronische Daten] [L. Pinto, P. Zen, R. Rosa, G. Paskulin, A. Perla, L. Barea, M. Baumgartner, M. Dantas, B. Fowler, R. Giugliani, C. Vargas, M. Wajner, C. Graziadio] Summary: We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode. SSIEM and Springer, 2006 Pinto L. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut Zen P. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut Rosa R. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut Paskulin G. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut Perla A. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut Barea L. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut Baumgartner M. Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich aut Dantas M. Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich aut Fowler B. Metabolic Unit, University Children's Hospital, Basel, Switzerland aut Giugliani R. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil aut Vargas C. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil aut Wajner M. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil aut Graziadio C. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 205-206 0141-8955 29:1<205 2006 29 10545 https://doi.org/10.1007/s10545-006-0188-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0188-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Pinto L. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut NATIONALLICENCE 700 1- Zen P. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut NATIONALLICENCE 700 1- Rosa R. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut NATIONALLICENCE 700 1- Paskulin G. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut NATIONALLICENCE 700 1- Perla A. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut NATIONALLICENCE 700 1- Barea L. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut NATIONALLICENCE 700 1- Baumgartner M. Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich aut NATIONALLICENCE 700 1- Dantas M. Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich aut NATIONALLICENCE 700 1- Fowler B. Metabolic Unit, University Children's Hospital, Basel, Switzerland aut NATIONALLICENCE 700 1- Giugliani R. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil aut NATIONALLICENCE 700 1- Vargas C. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil aut NATIONALLICENCE 700 1- Wajner M. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil aut NATIONALLICENCE 700 1- Graziadio C. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 205-206 0141-8955 29:1<205 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer