Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Bulut, Fatma Derya; Kör, Deniz; Seker-Yilmaz, Berna; Gül-Mert, Gülen; Kilavuz, Sebile; Önenli-Mungan, Neslihan

Bulut, Fatma Derya; Kör, Deniz; Seker-Yilmaz, Berna; Gül-Mert, Gülen; Kilavuz, Sebile; Önenli-Mungan, Neslihan.

Afiliación

Bulut FD; Department of Pediatric Metabolism and Nutrition, Çukurova University, Adana, Turkey. deryaozduran@yahoo.com.
Kör D; Adana Numune Teaching and Research Hospital, Adana, Turkey.
Seker-Yilmaz B; Mersin Devlet Hastanesi, Mersin, Turkey.
Gül-Mert G; Adana Numune Teaching and Research Hospital, Adana, Turkey.
Kilavuz S; Department of Pediatric Metabolism and Nutrition, Çukurova University, Adana, Turkey.
Önenli-Mungan N; Department of Pediatric Metabolism and Nutrition, Çukurova University, Adana, Turkey.

Metab Brain Dis ; 33(3): 977-979, 2018 06.

Article en En | MEDLINE | ID: mdl-29159724

Asunto(s)

Acil-CoA Deshidrogenasa/deficiencia; Encefalopatías Metabólicas Innatas/diagnóstico; Errores Diagnósticos; Errores Innatos del Metabolismo Lipídico/diagnóstico; Púrpura/diagnóstico; Humanos; Lactante; Masculino

Palabras clave

Acrocyanosis; C4 and C5 acylcarnitines; Ethylmalonic encephalopathy; Short chain acyl-CoA dehydrogenase deficiency

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Púrpura / Encefalopatías Metabólicas Innatas / Acil-CoA Deshidrogenasa / Errores Diagnósticos / Errores Innatos del Metabolismo Lipídico Tipo de estudio: Diagnostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2018 Tipo del documento: Article País de afiliación: Turquía

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