Peroxisomal D-bifunctional enzyme deficiency. A case report

Newborn was referred with diagnosis of neonatal epilepsy. Medical team could suspect and confirm D-bifunctional peroxisomal enzymatic deficiency diagnosis. It was made by family antecedents, severe neonatal hypotonia, uncontrolled neonatal seizures, craniofacial dysmorphic features, psychomotor reta...

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Veröffentlicht in:	Revista médica (Mexico : 1983) 2008-07, Vol.46 (4), p.445-448
Hauptverfasser:	Chávez-Torres, Raquel, Ruiz-Chávez, Jaime, Ruiz-Cruz, Eugenia, Juárez-Naranjo, Evelyn, Campos-Campos, Laura, Villanueva-Padrón, Laura, Horta-Martínez, Adriana, Montes-Castillo, María de la Luz, Monroy-Hernández, Victor, Hernández-Caballero, Elena
Format:	Artikel
Sprache:	spa
Schlagworte:	3-Hydroxyacyl CoA Dehydrogenases - deficiency Enoyl-CoA Hydratase - deficiency Humans Infant, Newborn Isomerases - deficiency Male Metabolic Diseases - diagnosis Multienzyme Complexes - deficiency Peroxisomal Bifunctional Enzyme
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