Results 151 to 160 of about 13,139 (196)

Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria. [PDF]

FASEB J
Chaturvedi S, Mishra S, Pandya N, Kumar S, Negi R, Singh S, Patel Y, Tiwari S, Patel A, Gupta RK, Mishra SK, Singh A, Tripathi G, Tripathi A, Kumar A, Dubey PK.   +15 more
europepmc   +1 more source

Tetrahydrobiopterin (BH4) Improves Endothelial Cell Survival After Vascular Injury

, 2016
Rinze, R, Ali, Z, Douglas, G, Alp, N, Channon, K   +4 more
openaire   +1 more source

Assessment of Tetrahydrobiopterin (BH4) Responsiveness in Phenylketonuria

Journal of Pediatrics, 2007
To determine the prevalence of and identify subjects with phenylketonuria (PKU; phenylalanine hydroxylase deficiency) responsive to 6R-tetrahydrobiopterin (BH4) and to establish selection criteria for potential treatment with BH4.Blood phenylalanine levels from 557 newborns and children with various degrees of PKU (blood phenylalanine, 301 to 4743 ...
Nenad Blau
exaly   +5 more sources

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies [PDF]

Molecular Genetics and Metabolism, 2011
This article summarizes the present knowledge, recent developments, and common pitfalls in the diagnosis, classification, and genetics of hyperphenylalaninemia, including tetrahydrobiopterin (BH4) deficiency. It is a product of the recent workshop organized by the European Phenylketonuria Group in March 2011 in Lisbon, Portugal. Results of the workshop
Uta Lichter-Konecki, Julia B Hennermann, Nenad Blau   +2 more
exaly   +6 more sources

Klassische Phenylketonurie und Tetrahydrobiopterin (BH4)-responsive Hyperphenylalaninämie

Kinder- Und Jugendmedizin, 2011
ZusammenfassungDie Phenylketonurie (PKU) ist eine der häufigsten angeborenen Stoffwechselerkrankungen. Ursache ist die Aktivitätsminderung der Phenylalaninhydroxylase (PAH). Unbehandelt führt die Erkrankung zu schwerer psycho-motorischer Retardierung. Die PKU war die erste im Neugeborenenalter gescreente Erkrankung. Diagnostik und Therapie sind bereits
S Beblo, U Mütze
exaly   +3 more sources

Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose [PDF]

Journal of Pediatric Endocrinology and Metabolism, 2017
Background:Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made a huge difference in the diets of patients with PKU.
Deniz Kor, Halise Neslihan Önenli, Berna Seker Yilmaz   +2 more
exaly   +5 more sources