Zobrazeno 1 - 10
of 232
pro vyhledávání: '"J.-P. Colombo"'
Autor:
B. Amaral, A. Carneiro, D. Budib Lourenço, M. Langer Wroclawski, B. Camargo Tiseo, Junior W. Alfer, J. Roberto Colombo, A. Vasconcelos, F. Russo, N. Jim Kim, S. Eduardo Alonso Araujo, M. Cendoroglo Neto, G. Caserta Lemos
Publikováno v:
European Urology Open Science, Vol 19, Iss , Pp e570-e571 (2020)
Externí odkaz:
https://doaj.org/article/6aea8d8f4203427490a1e4867612aa1d
Publikováno v:
Acta Paediatrica. Supplement. Sep2003 Supplement 442, Vol. 92 Issue s442, p42. 5p.
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
Autor:
B. Celik, Bruce A. Reitz, Ulrich Althaus, Thomas Schaffner, G. Printzen, Thierry Carrel, Beat H. Walpoth, H. Reichenspurner, E. Peheim, J. P. Colombo
Publikováno v:
Transplant International. 11:S502-S507
Non-invasive detection of cardiac rejection still remains a challenge after heart transplantation. We assessed troponin-T as a new serum marker to diagnose cardiac rejection. Twenty-five heart transplant patients (Berne) were monitored prospectively
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4af39c972137b5bd9ba4f51057fd3007
https://doi.org/10.1007/s001470050528
https://doi.org/10.1007/s001470050528
Publikováno v:
Human Mutation. 12:206-211
Carbamoyl phosphate synthetase I (CPS1) deficiency is an autosomal recessive metabolic disorder affecting the first enzymatic step of urea cycle. We report a consanguineous family in which the index patient died at 11 days of age from a severe form o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0cbc440caa38706b4e91a868f6f780
https://doi.org/10.1002/(sici)1098-1004(1998)12:3<206::aid-humu8>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1998)12:3<206::aid-humu8>3.3.co
Autor:
Andreas Gal, Katja Sperhake, J P Colombo, Alfried Kohlschütter, Hansjörg Schäfer, Ulrich Finckh
Publikováno v:
Human Mutation. 12:206-211
Carbamoyl phosphate synthetase I (CPS1) deficiency is an autosomal recessive metabolic disorder affecting the first enzymatic step of urea cycle. We report a consanguineous family in which the index patient died at 11 days of age from a severe form o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb0f3c6cb78011726ec9784bc037bd7e
https://doi.org/10.1002/(sici)1098-1004(1998)12:3<206::aid-humu8>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1998)12:3<206::aid-humu8>3.0.co