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https://www.readbyqxmd.com/read/11003903/-oxidative-phosphorylation-defects-with-neonatal-presentation-review-of-our-caseload
#1
V Rebage Moisés, S Rite Gracia, J López-Pisón, M Muñoz Albillos, E Aisa Pardo, J A Giménez Más, J Arenas Barbero, J Montoya Vilarroya, A Marco Telloa, M I Salazar García-Blanco, A Baldellou Vázquez
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 ensymatic deficit of the respiratory chain, associated with alterations in the mtDNA in one case, and with mitochondrial ultrastructural anomalies in 5 cases...
March 2000: Anales Españoles de Pediatría
https://www.readbyqxmd.com/read/9951179/-janiceps-cephalo-thoraco-abdominopagus-pregnancy
#2
M Hernández-Valencia, A Baruch Pavón Rojas, L A Ferrer Ponce, M Alvarez Muñoz
Cojoined twins was analyzed type cephalothoracoabdominopagus, is especially rare case of dysgenetic abnormalities, in which the heads, necs, thoraces and abdomen are joined. Twins births joined have been said to occur with a frequency of 1 per 100,000 deliveries, but the incidence of this malformations is one in three million conjoined twins. Conjoined twinning may be associated with a more fundamental failure of embryonic migration or may be associated with a more fundamental failure of ambryonic migration or fusion, 95% of conjoined twins are females...
December 1998: Ginecología y Obstetricia de México
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