Zobrazeno 1 - 10
of 249
pro vyhledávání: '"B Wermuth"'
Publikováno v:
Acta Paediatrica. 94:121-124
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33caeada99084b04657c1032f18ba8db
https://doi.org/10.1080/08035250410030937
https://doi.org/10.1080/08035250410030937
Publikováno v:
Clinical Genetics. 59:111-114
We report on late-onset ornithine transcarbamylase (OTC) deficiency in two families with mutations in the same codon, but different base substitutions. Onset of symptoms showed great variation, and five hemizygotes finally died. Clinical diagnosis wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3bb5faa97a5fc36491610c8aee70ed39
https://doi.org/10.1034/j.1399-0004.2001.590208.x
https://doi.org/10.1034/j.1399-0004.2001.590208.x
Autor:
S.D. P. Vannini, A. C. Truttmann, M. G. Bianchetti, S. D. P. Vannini, B. L. Mazzola, L. Rodoni, P. Ferrari, B. Wermuth
Publikováno v:
Transplant International. 12:244-249
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acd10bde38421cc0be030bdd290de67c
https://doi.org/10.1111/j.1432-2277.1999.tb01208.x
https://doi.org/10.1111/j.1432-2277.1999.tb01208.x
Publikováno v:
Acta Paediatrica. 88:1409-1411
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bafbf86f993d892c047072a63f0a6f39
https://doi.org/10.1111/j.1651-2227.1999.tb01062.x
https://doi.org/10.1111/j.1651-2227.1999.tb01062.x
Publikováno v:
Monatsschrift Kinderheilkunde. 146:652-658
Der Ornithintranscarbamylasemangel ist der haufigste angeborene Defekt des Harnstoffzyklus. Er wird im Gegensatz zu anderen akut verlaufenden angeborenen Stoffwechselerkrankungen X-chromosomal vererbt. Betroffene Jungen zeigen in der Regel schon in d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ba5b317077d7989cbb0ee622a0ed962
https://doi.org/10.1007/s001120050305
https://doi.org/10.1007/s001120050305
Publikováno v:
Monatsschrift Kinderheilkunde. 145:238-241
Der X-chromosomal vererbte OTC-Defekt ist die haufigste angeborene Harnstoffzykluserkrankung. Die auf molekularer Ebene nachgewiesene Heterogenitat mit mehr als 50 Mutationen im OTC-Gen ist die Basis fur klinisch sehr unterschiedliche Verlaufe. Wir b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be77562dc3457f459fafc4317264a4a9
https://doi.org/10.1007/s001120050121
https://doi.org/10.1007/s001120050121
Publikováno v:
Klinische Pädiatrie. 208:129-134
BACKGROUND Rett syndrome can be diagnosed only clinically. Several biochemical abnormalities are known, but none of them is characteristic. To our knowledge only one study on carnitine deficiency and one case of successful carnitine therapy have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c47e22c2d232465b0a26231366dc382
https://doi.org/10.1055/s-2008-1046461
https://doi.org/10.1055/s-2008-1046461
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)
Autor:
Elisa Leão Teles, Esmeralda Martins, Rita Quental, Luísa Azevedo, Luísa Diogo, B. Wermuth, L. Vilarinho, Bruno Cenni, António Amorim, Pedro Soares, Paula Garcia
Publikováno v:
Annals of human genetics. 70(Pt 6)
Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff9835f7d9568028244629ad94bfe21
https://pubmed.ncbi.nlm.nih.gov/17044854
https://pubmed.ncbi.nlm.nih.gov/17044854
Publikováno v:
Hepatology. 24:1413-1415
Ornithine transcarbamylase (OTC) deficiency shows X-linked inheritance. Typically, symptomatic females (who constitute 15%-20% of all carriers) have markedly reduced enzyme activity and show first symptoms in late infancy or early childhood. Here we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43640ba1bfc5300719a87eb10fb636b7
https://doi.org/10.1002/hep.510240618
https://doi.org/10.1002/hep.510240618