Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Phenylalanine hydroxylase activity"'
Autor:
Katrin Õunap, Kai Muru, Karit Reinson, Tiina Kahre, Kadi Künnapas, Ülle Murumets, Hardo Lilleväli, Siret Saarsalu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Blood phenylalanine (Phe) values from the dried blood spots of all Estonian phenylketonuria (PKU) patients have been deposited into a unified electronic laboratory database for eight years, providing an opportunity to assess the adherence of the pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18c5857d8339794956088198c3cb3f3
http://www.sciencedirect.com/science/article/pii/S2214426919300266
http://www.sciencedirect.com/science/article/pii/S2214426919300266
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 43(2)
In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine-restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for add
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::861057bc42cfee6e55468e7e2d55fdca
https://pubmed.ncbi.nlm.nih.gov/31373030
https://pubmed.ncbi.nlm.nih.gov/31373030
Autor:
Monia Allal El Asmi, Riadh Jemaa, Jean Louis Dhondt, Moncef Feki, Haifa Sanhaji, Marie Françoise Ben Dridi, Sameh Khemir, Naziha Kaabachi, Neji Tebib, Abderraouf Mebazaa
Publikováno v:
Clinical Neurology and Neurosurgery. 113:727-730
Background and objective Accumulation of phenylalanine following a deficiency of phenylalanine hydroxylase activity generates a brain damage with mental retardation: phenylketonuria (PKU). In the developing countries, where PKU systematic neonatal sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d96a240e5ccf0a52b4525ab29b09e5
https://doi.org/10.1016/j.clineuro.2011.07.016
https://doi.org/10.1016/j.clineuro.2011.07.016
Autor:
Mathias Schreckenberger, Christian Landvogt, Hans Georg Buchholz, Peter Bartenstein, Paul Cumming, Reinhold Feldmann, Fred Zepp, Armin Scheurich, Thomas Siessmeier, Josef Weglage, Kurt Ullrich, Eugen Mengel
Publikováno v:
Journal of Cerebral Blood Flow & Metabolism. 28:824-831
Deficiency of phenylalanine hydroxylase activity in phenylketonuria (PKU) causes an excess of phenylalanine (Phe) throughout the body, predicting impaired synthesis of catecholamines in the brain. To test this hypothesis, we used positron emission to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3fa3d12cccc93e042ffbd52f6092a3d
https://doi.org/10.1038/sj.jcbfm.9600571
https://doi.org/10.1038/sj.jcbfm.9600571
Publikováno v:
European Journal of Pediatrics. 159:S129-S135
Dietary treatment of phenylketonuria is well established to be safe and to prevent developmental and mental impairment in patients with low or absent phenylalanine hydroxylase activity. The use of semi-synthetic diets necessitates careful and longitu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::098c11f70411619b64c74731df8cab6f
https://doi.org/10.1007/pl00014376
https://doi.org/10.1007/pl00014376
Autor:
James E. Wraith
Publikováno v:
Current Paediatrics. 4:1-4
Phenylketonuria can be defined as a persistent hyperphenylalaninaemia (> 240 umol/l ) , with associated secondary tyrosine deficiency, and with excretion of phenylketones in the urine of the affected individual. A number of different enzyme deficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f8ca66b5e680c31e755dc9ab347878f
https://doi.org/10.1016/0957-5839(94)90002-7
https://doi.org/10.1016/0957-5839(94)90002-7
Publikováno v:
Molecular genetics and metabolism. 94(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd7ca5275df68a18669c8d800940f36
https://pubmed.ncbi.nlm.nih.gov/18482855
https://pubmed.ncbi.nlm.nih.gov/18482855
Autor:
Yoichi Matsubara, Seiichi Kato, Yoichi Suzuki, Kunihiro Fujii, Shigeo Kure, Kenichi Sato, Yoko Aoki
Publikováno v:
Molecular genetics and metabolism. 83(1-2)
We previously proposed a novel disease entity, tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency, in which administration of BH4 reduced elevated levels of serum phenylalanine [J. Pediatr. 135 (1999) 375-378]. Subsequent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aedf3d71872dd512ab379c5ed529588
https://pubmed.ncbi.nlm.nih.gov/15464429
https://pubmed.ncbi.nlm.nih.gov/15464429
Publikováno v:
Chemistry and Biology of Pteridines and Folates ISBN: 9781461353171
In the pigmentary disorder vitiligo the epidermal pteridine metabolism is altered concomitantly with highly increased levels of H2O in the millimolar range. The epidermal de novo and recycling biosynthetic pathway of tetrahydrobiopterin shows increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b455ef6662518f23139766741ad4410
https://doi.org/10.1007/978-1-4615-0945-5_60
https://doi.org/10.1007/978-1-4615-0945-5_60
