Zobrazeno 1 - 10
of 38
pro vyhledávání: '"M. Blaskovics"'
Publikováno v:
Pteridines, Vol 3, Iss 1-2, Pp 25-28 (1991)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16896504828acbd6e707909b2d8ef36
http://doc.rero.ch/record/297969/files/pteridines.1991.3.12.25.pdf
http://doc.rero.ch/record/297969/files/pteridines.1991.3.12.25.pdf
Autor:
Marie O. Rolland, Pierre Guibaud, Hans-Christoph Curtius, E. Wetzel, Max Viscontini, T. A. Giudici, M. Blaskovics, C. Adler
Publikováno v:
ChemInform. 23
6α,β-Tetrahydro-L-[3′-2H1]biopterin ([3′-2H1]-1) was administered orally to two primapterinuric patients in order to investigate the biosynthetic pathway of 7-substituted pterins in humans. L-Primapterin (2) and L-biopterin were isolated from u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8baf2dd490ed6c8c02009f82ad314a81
https://doi.org/10.1002/chin.199241250
https://doi.org/10.1002/chin.199241250
Autor:
Hans-Christoph Curtius, Pierre Guibaud, E. Wetzel, T. A. Giudici, C. Adler, M. Blaskovics, Marie O. Rolland, Max Viscontini
Publikováno v:
Helvetica Chimica Acta. 75:1237-1244
6α,β-Tetrahydro-L-[3′-2H1]biopterin ([3′-2H1]-1) was administered orally to two primapterinuric patients in order to investigate the biosynthetic pathway of 7-substituted pterins in humans. L-Primapterin (2) and L-biopterin were isolated from u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::253ac08f6462174bfb0df87bae69083b
https://doi.org/10.1002/hlca.19920750423
https://doi.org/10.1002/hlca.19920750423
Publikováno v:
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases ISBN: 9783642627095
Although many of the simple urine tests listed below are no longer being done in large metabolic centers, they are still of importance for small laboratories and in countries where new more sophisticated techniques are not available. Some are nonspec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f81a31bfe9b9e2c7440f042e2fab6860
https://doi.org/10.1007/978-3-642-55878-8_1
https://doi.org/10.1007/978-3-642-55878-8_1
Diagnostic screening for mucopolysaccharidoses types I-VII by fluorophore-labelled carbohydrate PAGE
Publikováno v:
Journal of inherited metabolic disease. 19(2)
Proteoglycans, constituents of the extracellular matrix of various tissues, are proteins that contain covalently linked glycosaminoglycans (GAG). They are processed by proteases and endoglycosidases into highly sulphated, high-molecular-weight polysa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb22839b2554836cc021c1b9294aecc
https://pubmed.ncbi.nlm.nih.gov/8739982
https://pubmed.ncbi.nlm.nih.gov/8739982
Publikováno v:
Journal of inherited metabolic disease. 15(3)
Primapterinuria, a recently discovered variant of hyperphenylalaninaemia, is characterized by the excretion of 7-substituted pterins in the patient's urine (Curtius et al 1988). Although 9 patients have already been diagnosed worldwide (Dhondt et al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd1114026fdb354072fab69edbd3ab5
https://pubmed.ncbi.nlm.nih.gov/1405481
https://pubmed.ncbi.nlm.nih.gov/1405481
Autor:
Hazel Stroud, Harriet H. Cloud, Elaine W. Lis, Elizabeth Wenz, M. Blaskovics, Phyllis B. Acosta
Publikováno v:
Journal of the American Dietetic Association. 80:443-450
This study suggests that, with appropriate diet manipulation and control of blood phenylalanine, women with PKU can give birth to normal infants.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc8ff07ba138326dca86024a45fef885
https://doi.org/10.1016/s0002-8223(21)08493-5
https://doi.org/10.1016/s0002-8223(21)08493-5
Autor:
Nenad Blau, Beat Thöny, Pamela Arn, June E. Ayling, Igor Rebrin, L. Kierat, M. Blaskovics, Patrick Ferreira, F. Neuheiser
Publikováno v:
The American Journal of Human Genetics. (6):1302-1311
Summary Pterin-4a-carbinolamine dehydratase (PCD) is required for efficient tetrahydrobiopterin regeneration after phenylalanine hydroxylase activity. This catalytic function was proposed to be specifically defective in newborns with a mild form of h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62bc55ce8732ebec5ea7d90dd0c7930a
Autor:
Nenad Blau, H. Ch. Curtius, Th. Kuster, A. Matasovic, G. Schoedon, J. L. Dhondt, P. Guibaud, T. Giudici, M. Blaskovics
Publikováno v:
Studies in Inherited Metabolic Disease ISBN: 9789401069700
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63f25fc3bcce4badaad1d02b2ae27bd9
https://doi.org/10.1007/978-94-009-1069-0_44
https://doi.org/10.1007/978-94-009-1069-0_44
Publikováno v:
Journal of the American Dietetic Association. 80(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a90f20897b1f7071fb350f776fef3b97
https://pubmed.ncbi.nlm.nih.gov/7077001
https://pubmed.ncbi.nlm.nih.gov/7077001