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[Oxidative phosphorylation defects with neonatal presentation: review of our caseload].

Anales espanoles de pediatria - 1 Mar 2000

Rebage Moisés V, Rite Gracia S, López-Pisón J, Muñoz Albillos M, Aisa Pardo E, Giménez Más J A, Arenas Barbero J, Montoya Vilarroya J, Marco Telloa A, Salazar García-Blanco M I, Baldellou Vázquez A

Abstract excerpt

OBJECTIVES: To define the oxidative phosporilation deficit syndrome in the neonatal in terms of incidence and clinical, biochemical and genetic features. MATERIAL AND METHODS: We report 9 newborns diagnosed as oxidatic phosporilation deficit during the last 8 years in our hospital by means of clinical, metabolic, pathological and molecular studies, among other evaluations. The diagnosis was established based on...

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PMID: 11003903

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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