Coma du nourrisson aux urgences : 2 cas de déficit en MCAD

Autor: V. Paquis, C. Caruba, M. Hoflack, H. Haas, G. Pitelet, Etienne Bérard, J.-C. Mas

Publikováno v: Archives de Pédiatrie. 17:1074-1077

Medium-chain Acyl-CoA dehydrogenase deficiency (MCAD) is one of the most common fatty acid oxidation disorders. Clinical manifestations can be serious and lead to death if unrecognized. They are not specific and can mimic meningitis or an acute intes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aa33c3524023d418b744b283a55c382d
https://doi.org/10.1016/j.arcped.2010.03.011

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

Autor: Sylvie Bannwarth, C Caruba, C. Rouzier, Véronique Paquis-Flucklinger, Elsebet Ostergaard, S Le Guédard-Méreuze, Christian Richelme, C Espil, Valérie Serre, J Miro, Brigitte Chabrol, Sylvie Tuffery-Giraud, J-F Pellissier, Annabelle Chaussenot, Konstantina Fragaki

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (10), pp.670. ⟨10.1136/jmg.2009.073445⟩
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (10), pp.670. 〈10.1136/jmg.2009.073445〉
Journal of Medical Genetics, 2010, 47 (10), pp.670. ⟨10.1136/jmg.2009.073445⟩

Background Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2 , the gene encoding a β subunit of succinate-CoA ligase, have been reported in 17 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ff19e682ca3aabc75f1a4023cb23219
https://hal.archives-ouvertes.fr/hal-00557375

U-Pb dating and isotopic signature of the alkaline ring complexes of Bou Naga (Mauritania): its bearing on late proterozoic plate tectonics around the West African craton

Autor: R. Caby, J. Bernard-Griffiths, R. Dars, R. Caruba, Jean-Jacques Peucat, A. Blanc, C. Caruba, Serge Fourcade

Publikováno v: Journal of African Earth Sciences (and the Middle East). 14:301-311

In the West African fold belt of Mauritania, high-grade metamorphic series, similar to those of Amsaga (Reguibat shield-West African Craton), are exposed in a window. At Bou Naga-Mauritania (19° N, 13° 15′ W) in the South of this window, an alkal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8b321063c328875dc9a1f1874eb5f042
https://doi.org/10.1016/0899-5362(92)90034-a

[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]

Autor: S, Pierron, H, Giudicelli, M, Moreigne, A, Khalfi, G, Touati, C, Caruba, M-O, Rolland, C, Acquaviva

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 17(1)

3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c3f6bd288f58c9a2e63092cfd0d1fc5d
https://pubmed.ncbi.nlm.nih.gov/19932602

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