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Tetrahydrobiopterin biosynthesis, regeneration and functions.
Tetrahydrobiopterin (BH(4)) cofactor is essential for various processes, and is present in probably every cell or tissue of higher organisms. BH(4) is required for various enzyme activities, and for… Expand
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
- G. Rice, T. Patrick, +115 authors Y. Crow
- Biology, Medicine
- American journal of human genetics
- 1 October 2007
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in… Expand
The complete European guidelines on phenylketonuria: diagnosis and treatment
- A. V. van Wegberg, A. Macdonald, +16 authors F. V. van Spronsen
- Orphanet Journal of Rare Diseases
- 12 October 2017
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If… Expand
Tetrahydrobiopterin: biochemistry and pathophysiology.
BH4 (6R-L-erythro-5,6,7,8-tetrahydrobiopterin) is an essential cofactor of a set of enzymes that are of central metabolic importance, including four aromatic amino acid hydroxylases, alkylglycerol… Expand
Cerebral folate deficiency.
Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the… Expand
Laboratory guide to the methods in biochemical genetics
Laboratory guide to the methods in biochemical genetics / , Laboratory guide to the methods in biochemical genetics / , کتابخانه دیجیتال جندی شاپور اهواز
Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency
Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH4)‐responsive hyperphenylalaninemia has been recently described as a variant of PAH… Expand
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
About two-thirds of all mild phenylketonuria (PKU) patients are tetrahydrobiopterin (BH4)-responsive and thus can be potentially treated with BH4 instead of a low-phenylalanine diet. Although there… Expand
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
DOPA responsive dystonia (DRD) and sepiapterin reductase (SR) deficiency are inherited disorders of tetrahydrobiopterin (BH4) metabolism characterized by the signs and symptoms related to monoamine… Expand
Management of phenylketonuria in Europe: survey results from 19 countries.
- N. Blau, A. Bélanger-Quintana, +5 authors F. V. van Spronsen
- Molecular genetics and metabolism
- 1 February 2010
To gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was performed. The questionnaire,… Expand