Zobrazeno 1 - 10 of 458 pro vyhledávání: '"JM Saudubray"'
1
Severe complex I deficiency in a case of neonatal-onset lactic acidosis and fatal liver failure
Autor: Roberto Cerone, Gigliola Serra, Pierre Rustin, Corrado Romano, W. Bonacci, JM Saudubray, Ubaldo Caruso, A Munnich, Massimo Mazzella
Publikováno v: Acta Paediatrica. 86:326-329
We report a newborn admitted to our service on the 2nd day of life because of hypotonia and metabolic acidosis. A progressive hepatocellular dysfunction dominated the clinical picture and the patient died at 13 months of age because of severe hepatic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9feefd861733a511b666b1529772ef12
https://doi.org/10.1111/j.1651-2227.1997.tb08901.x
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2
[Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome]
Autor: Pierre Vabres, Sevin C, Jc, Amoric, Mh, Odièvre, Jm, Saudubray, de Prost Y
Publikováno v: Europe PubMed Central
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Type I carbohydrate deficient glycoprotein (CDG) syndrome is an inborn hereditary error of metabolism with a broad clinical spectrum. It is characterized by partial N-glycan deficiency of glycoproteins. Skin features may be part of this syndrome in i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::340dcc3a36823ed56b0832d577f7b3f7
https://pubmed.ncbi.nlm.nih.gov/9835963
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3
Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases
Autor: Christine Sempoux, Guiot Y, Dubois D, Mc, Nollevaux, Jm, Saudubray, Nihoul-Fekete C, Rahier J
Publikováno v: Europe PubMed Central
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is characterized by severe hypoglycemia related to inappropriate insulin secretion. Morphologically, a tumoral and a nontumoral form are recognized. The tumoral form can be subdivided into ad
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::08c5f4a0403783c0a553d81754d0891b
https://pubmed.ncbi.nlm.nih.gov/9619597
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4
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression
Autor: Jean-Paul BONNEFONT, Taroni F, Cavadini P, Cepanec C, Brivet M, Jm, Saudubray, Jp, Leroux, Demaugre F
Publikováno v: Europe PubMed Central
Carnitine palmitoyltransferase (CPT) II deficiency, an inherited disorder of mitochondrial long-chain fatty-acid (LCFA) oxidation, results in two distinct clinical phenotypes, namely, an adult (muscular) form and an infantile (hepatocardiomuscular) f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6d7cb46cffa1104fb0453639dd1f63de
https://pubmed.ncbi.nlm.nih.gov/8651281
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5
[Nesidioblastosis and persistent neonatal hyperinsulinism]
Autor: Christine Sempoux, Poggi F, Brunelle F, Jm, Saudubray, Fekete C, Rahier J
Publikováno v: Europe PubMed Central
Neonatal hyperinsulinism is characterized by severe hypoglycaemia which can cause serious neurologic effects. Pancreatic morphological abnormalities involve either focal or diffuse lesions. The former can be cured by resection, whereas the latter, of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6f8b7471b0a620177cf08b0a446e3eb9
https://pubmed.ncbi.nlm.nih.gov/7602894
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6
[Sulfite oxidase deficiency presenting as Leigh syndrome]
Autor: Amiel J, Gagey V, Rabier D, Dorche C, Jean-Paul BONNEFONT, Jl, Dufier, Jm, Saudubray, Rey J, Munnich A
Publikováno v: Europe PubMed Central
An enzyme deficiency can be demonstrated in 15 to 20% of cases of Leigh syndrome. A case of isolated sulphite oxidase deficiency is reported in a girl presenting with Leigh syndrome.An 8 month-old girl was admitted suffering from hypotonia and slow i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::99011058e28a19de0c6ad7bb2af09871
https://pubmed.ncbi.nlm.nih.gov/7834040
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7
[Diagnosis of metabolic coma in children]
Autor: Poggi-Travert F, Héron B, Billette de Villemeur T, Spada M, Philippe Jouvet, Charpentier C, Rabier D, Kamoun P, Jm, Saudubray
Publikováno v: Europe PubMed Central
This article describes the metabolic investigations to be applied in any clinical situation consistent with a late acute form of inborn error of metabolism: unexplained coma with or without focal neurological manifestations, recurrent vomiting with l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5fb08261433b04a1716272ef5f931461
https://pubmed.ncbi.nlm.nih.gov/7842129
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9
[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form]
Autor: Jean-Paul BONNEFONT, Ogier H, Mitchell G, Demaugre F, Pelet A, Jm, Saudubray, Frezal J
Publikováno v: Europe PubMed Central
Carnitine Palmitoyl Transferase (CPT) deficiencies are found in 2 different clinical forms: muscular and hepatic. The study of fibroblasts of 2 patients corresponding to each of these situations showed that these phenotypes are associated with differ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8004ebb1c0d9134ad2e405b08ba4506b
https://pubmed.ncbi.nlm.nih.gov/4083994
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