Zobrazeno 1 - 10 of 105 pro vyhledávání: '"N, Chamoles"'
1
The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid
Autor: Marie Lambert, Soo Sang Kang, Selma E. Snyderman, Roberto Cerone, I. Possemiers, Italo Antonozzi, Makoto Yoshino, Stephen D. Cederbaum, Marc E. De Broe, N. Chamoles, Rosa Gatti, Peter Paul De Deyn, I.A. Qureshi, Bart Marescau
Publikováno v: Metabolism
To better understand the biosynthesis of guanidinosuccinic acid, we determined urea, arginine, and guanidinosuccinic acid levels in nondialyzed uremic and hyperargininemic patients. These substances were also determined during several years of therap
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418c1ab45a91324c6638919a01945cb3
https://doi.org/10.1016/0026-0495(92)90131-s
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2
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency
Autor: N. Chamoles, C. Costa, Michèle Brivet, P. de Lonlay, Charles R. Roe, J. M. Saudubray, Jean-Marc Nuoffer
Publikováno v: Nuoffer, Jean-Marc; de Lonlay, P.; Costa, C.; Roe, C. R.; Chamoles, N.; Brivet, M.; Saudubray, J. M. (2000). Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. European journal of pediatrics, 159(1-2), pp. 82-85. Springer 10.1007/pl00013810
A patient with a severe phenotype of carnitine-acylcarnitine translocase deficiency (CATR)(McKusick 212138) is reported. Prior to birth, a defect in beta-oxidation was suspected because of neonatal death of six siblings. Dietary treatment during neon
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5325b63b831b3c9b2093b3751db55680
https://pubmed.ncbi.nlm.nih.gov/10653336
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3
[Glutaric aciduria type 1: phenotypic variability. Report of 6 patients]
Autor: E B, Casella, A U, Bresolin, M, Valente, D A, Daniel, J J, Machado, M A, Vieira, A G, Tenório, N, Chamoles
Publikováno v: Arquivos de neuro-psiquiatria. 56(3B)
We report six patients with glutaric aciduria type 1 in four families. The patients had marked clinical variability, even within families. Three of the patients studied were normal until the onset of neurologic abnormalities, that presented as an enc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f397c461aff56116830237be5913a9bb
https://pubmed.ncbi.nlm.nih.gov/9850748
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4
[Severe cardiac failure in Kearns-Sayre syndrome]
Autor: D, Consalvo, F, Villegas, A M, Villa, G, Köhler, H, Molina, E, Benchuga, N, Chamoles, O P, Sanz, R E, Sica
Publikováno v: Medicina. 57(1)
Mitochondrial disorders are a group of diseases that can affect virtually all organ systems. A 19 year old man was seen in 1993 with neurologic abnormalities consisting of impaired function of muscles, diplopia, progressive loss of vision, impaired p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d60044f48f2b2167d48b0c3924febb24
https://pubmed.ncbi.nlm.nih.gov/9435373
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6
[Autoimmune hypoglycemia syndrome with specific anti-human insulin antibodies]
Autor: J C, Cresto, J E, Abdenur, N, Chamoles, P, Bresciani, M, Ruiz, B, Massa, M C, Camberos, J C, Basabe
Publikováno v: Medicina. 56(3)
A 33 year old woman with episodes of severe hypoglycemia is presented. The studies showed anti-insulin antibodies and variable C-peptide levels. Circulating insulin measured after acid-ethanol extraction, was of 1,600 uU/ml and shown to be human insu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::78de66aa5e5bd2f7987d472021d2f00a
https://pubmed.ncbi.nlm.nih.gov/9035485
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8
[Chronic hexosaminidase A deficiency associated with pure sensory peripheral neuropathy]
Autor: R E, Sica, M I, García Erro, H A, Molina, O P, Sanz, N, Chamoles, C, Arbera
Publikováno v: Medicina. 52(1)
One patient with hexosaminidase A (Hx A) deficiency, which produces GM2 gangliosidosis, developed a complex progressive neurological syndrome, starting when he was 10 years old, which encompassed intellectual impairment, cerebellar involvement, featu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3c6d8abedff25e9cf24686bc4e7d11c4
https://pubmed.ncbi.nlm.nih.gov/1302293
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9
Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy
Autor: R. Gatti, I. Possemiers, Armand Lowenthal, J.P. Colombo, S.S. Kang, I. Antonozzi, N. Chamoles, N. Mizutani, M Lambert, R. Cerone, M Yoshino, C. Bachmann, S D Cederbaum, I. Rezvani, H.G. Terheggen, I.A. Qureshi, K. Hyland, Bart Marescau, S.E. Snyderman, J Letarte, P.P. De Deyn
Publikováno v: Pediatric research. 27(3)
The aim of this collaborative study was to investigate whether guanidino compound analyses in the biologic fluids can be used as a complementary diagnostic parameter for hyperargininemia. Guanidino compounds were determined in the biologic fluids of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d272f305dd5e54ee5218a1a9a4daedf
https://pubmed.ncbi.nlm.nih.gov/1690873
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