Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Alois Niederwieser"'
Autor:
Th. Kuster, Alois Niederwieser
Publikováno v:
Unconjugated pterins and related biogenic amines: Proceedings of the First International Workshop, Flims, Switzerland, February 28-March 7, 1987
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ff502d936070ff971fb9874a6076dfd
https://doi.org/10.1515/9783111503844.31
https://doi.org/10.1515/9783111503844.31
Autor:
Th. Kuster, Fritz Raschdorf, Walter Leimbacher, R. Dahinden, H.-Ch. Curtius, Alois Niederwieser, Wilhelm J. Richter
Publikováno v:
Unconjugated pterins and related biogenic amines: Proceedings of the First International Workshop, Flims, Switzerland, February 28-March 7, 1987
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ab2b80cdac5e225435e9271ac25eb31
https://doi.org/10.1515/9783111503844.39
https://doi.org/10.1515/9783111503844.39
Publikováno v:
Journal of inherited metabolic disease. 16(3)
Tetrahydrobiopterin (BH 4 ) deficiency accounts for 1-3% of all reported forms of hyperphenylalaninaemia (HPA). Deficiencies of two enzymes, GTP-cyclohydrolase (GTPch; EC 3.5.4.16) and 6-pyruvoyl tetrahydropterin synthase (6-PTS), lead to a defect in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::496a95959d015c3925581797b48c752e
https://pubmed.ncbi.nlm.nih.gov/7609463
https://pubmed.ncbi.nlm.nih.gov/7609463
Publikováno v:
Pediatric Research. 28:305-305
Tetrahydrobiopterin (BH4) deficiency comprises a group of very rare diseases characterized by progressive neurological symptoms unresponsive to treatment with low-phenylalanine diet. 6-Pyruvoyl-tetrahydropterin synthase deficiency, the most common fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21f2e927bb5f972e6be6666b6f522beb
https://doi.org/10.1203/00006450-199009000-00193
https://doi.org/10.1203/00006450-199009000-00193
Autor:
Alois Niederwieser, R. Gitzelmann, Beat Steinmann, A. Otten, Th. Egloff, K. Pfister, W. Steiner
Publikováno v:
cclm. 20:203-206
A high performance liquid chromatography (HPLC) method was developed for the quantitation of strychnine in urine of children with nonketotic hyperglycinaemia and other developmental disorders treated with the alkaloid. Mobile and stationary phases we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4360648c48545a0b16e43d6172749753
https://doi.org/10.1515/cclm.1982.20.4.203
https://doi.org/10.1515/cclm.1982.20.4.203
Publikováno v:
European Journal of Pediatrics. 144:17-20
Four adolescent or young adult patients with phenylketonuria were examined before and after discontinuation of dietary treatment. Plasma and CSF phenylalanine concentrations increased about two-fold in three patients. In these patients the CSF concen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e852c897b5aeac5b6c39fbfa9da3e2d0
https://doi.org/10.1007/bf00491918
https://doi.org/10.1007/bf00491918
Autor:
Robert A. Levine, Dorothee Heintel, Hans-Christoph Curtius, Alois Niederwieser, Sandro Ghisla
Publikováno v:
Neurochemistry International. 6:141-155
The biosynthetic pathway of tetrahydrobiopterin (BH(4)) from dihydroneopterin triphosphate (NH(2)P(3)) was studied in fresh as well as heat-treated human liver extracts. The question of NAD(P)H dependency for the formation of sepiapterin was examined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e74390a3ca04607608fc4650eb207ea
https://doi.org/10.1016/0197-0186(84)90039-1
https://doi.org/10.1016/0197-0186(84)90039-1
Publikováno v:
Journal of Inherited Metabolic Disease. 8:34-38
Six hundred and seventy-three children (483 newborns and 190 older selected children) were screened for tetrahydrobiopterin (BH4) deficiency by HPLC of urine pterins and BH4 load test. One patient with GTP cyclohydrolase I deficiency, 36 patients wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e30867875c05450c50580050a59a21db
https://doi.org/10.1007/bf01800657
https://doi.org/10.1007/bf01800657
Publikováno v:
Journal of Neural Transmission. 55:301-308
One patient with agitated, 2 patients with inhibited endogenous depression, and 2 patients with Parkinson's disease were treated with tetrahydrobiopterin (BH4) in single oral doses of 0.9–1 g. Part of the clinical symptoms disappeared in the 2 pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d03aae4bb8619cc06744305c0782bf3
https://doi.org/10.1007/bf01243451
https://doi.org/10.1007/bf01243451