Results 211 to 220 of about 22,851 (287)

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status. [PDF]

open access: yesJ Inherit Metab Dis
Garcia-Arenas D   +9 more
europepmc   +1 more source

Assessment of Tetrahydrobiopterin (BH4) Responsiveness in Phenylketonuria

open access: yesJournal 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

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.

Molecular Genetics and Metabolism, 2021
Tetrahydrobiopterin (BH4) deficiency is caused by genetic variants in the three genes involved in de novo cofactor biosynthesis, GTP cyclohydrolase I (GTPCH/GCH1), 6-pyruvoyl-tetrahydropterin synthase (PTPS/PTS), sepiapterin reductase (SR/SPR), and the ...
N. Himmelreich, N. Blau, B. Thöny
semanticscholar   +3 more sources

Improved reversible dehydrogenation properties of Mg(BH4)2 catalyzed by dual-cation transition metal fluorides K2TiF6 and K2NbF7

, 2021
Two dual-cation transition metal fluorides K2TiF6 and K2NbF7 are introduced into Mg(BH4)2 by ball-milling to catalyze the dehydrogenation of Mg(BH4)2.
Jiaguang Zheng   +5 more
semanticscholar   +1 more source

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