Zobrazeno 1 - 9
of 9
pro vyhledávání: '"M. Françoise Vincent"'
Publikováno v:
Muscle & Nerve. 21:401-403
The activities of adenylosuccinate synthetase, adenylosuccinate lyase, and adenosine monophosphate deaminase were measured in muscle from patients suffering from fatigue and cramps following exercise. Results denote the existence of secondary deficie
Publikováno v:
Purine and Pyrimidine Metabolism in Man X ISBN: 9780306465154
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ed8b5fa892609ebcbb09229ec4d478d
https://doi.org/10.1007/0-306-46843-3_15
https://doi.org/10.1007/0-306-46843-3_15
Autor:
Georges Van den Berghe, Anne H. Simmonds, Georg F. Hoffmann, M-Françoise Vincent, C. Brautigam, Wolfgang Storm, Birgit Assmann, Martin Köhler, S. Marie
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 3(1)
Adenylosuccinase deficiency is an autosomal recessive inherited defect of purine synthesis. In enzyme deficient patients, two normally undetectable compounds, succinylaminoimidazole carboxamide riboside and succinyladenosine, accumulate in urine, cer
Autor:
Fritz A. Beemer, Sandrine Marie, M. Duran, Georges Van den Berghe, Jolanda W. A. M. Flipsen, Bwee Tien Poll-The, Aad N. Bosschaart, M. Françoise Vincent
Publikováno v:
Prenatal diagnosis, 20(1), 33-36. John Wiley and Sons Ltd
Adenylosuccinate lyase deficiency, an autosomal recessive inborn error of purine synthesis, provokes accumulation in body fluids of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the two substrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e9778948f1fd08917f1f77c4f24d5b
https://pure.amc.nl/en/publications/prenatal-diagnosis-in-adenylosuccinate-lyase-deficiency(f2caef39-9b98-496f-9e66-159e2ecc2b4d).html
https://pure.amc.nl/en/publications/prenatal-diagnosis-in-adenylosuccinate-lyase-deficiency(f2caef39-9b98-496f-9e66-159e2ecc2b4d).html
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781461374565
Three enzymes of adenine nucleotide metabolism, adenylosuccinate synthetase (ASS), adenylosuccinate lyase (adenylosuccinase, ASL), and AMP deaminase (AMPDA), form the purine nucleotide cycle.1,2 Deficiences of muscle AMPDA (often called myoadenylate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6fc868c66da81dc1acf70fdebe086342
https://doi.org/10.1007/978-1-4615-5381-6_40
https://doi.org/10.1007/978-1-4615-5381-6_40
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781461577058
Adenylosuccinase (adenylosuccinate lyase, EC 4.3.2.2, ASase) catalyzes two steps in the biosynthesis of purine nucleotides: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) into AICAR along the de novo pathway, and the formation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed13054e1f511575de424125be18611d
https://doi.org/10.1007/978-1-4615-7703-4_62
https://doi.org/10.1007/978-1-4615-7703-4_62
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781461577058
AICAriboside (5-amino-4-imidazolecarboxamide riboside, Z-riboside) is the nucleoside corresponding to AICAribotide (AICAR or ZMP), an intermediate of the “de novo” biosynthesis of purines. AICAriboside is taken up and metabolized by various mamma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2290700b790b7e008a0e3604b6685da6
https://doi.org/10.1007/978-1-4615-7703-4_81
https://doi.org/10.1007/978-1-4615-7703-4_81
Publikováno v:
Pediatric Research. 24:138-138
Adenylosuccinase (ASase) deficiency provokes accumulation in body fluids of succinyl-adenosine (S-Ado) and SAICAriboside, the dephosphorylated derivatives of the two substrates of the enzyme. The concentration of both compounds reaches about 100 μM
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