[PDF][PDF] Mutationen im PTS-Gen und m�gliche Auswirkungen auf Funktion und Struktur der 6-Pyruvoyl-Tetrahydropterin-Synthase
FA Preu�e - 2001 - archiv.ub.uni-marburg.de
Die Erkrankung Phenylketonurie (PKU) bzw. Hyperphenylalanin�mie (HPA) wurde
erstmalig 1934 von dem norwegischen Biochemiker Asbj�rn F�lling (F�lling 1994)�…
erstmalig 1934 von dem norwegischen Biochemiker Asbj�rn F�lling (F�lling 1994)�…
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
A variant type of hyperphenylalaninemia is caused by a deficiency of tetrahydrobiopterin
(BH4), the obligatory cofactor for phenylalanine hydroxylase. The most frequent form of this�…
(BH4), the obligatory cofactor for phenylalanine hydroxylase. The most frequent form of this�…
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6‐pyruvoyltetrahydropterin synthase deficiency causing transient�…
T Scherer‐Oppliger, A Matasovic, S Laufs…�- Human�…, 1999 - Wiley Online Library
Mutations in the 6‐pyruvoyltetrahydropterin synthase (PTPS) gene result in persistent
hyperphenylalaninemia and severe catecholamine and serotonin deficiencies. We�…
hyperphenylalaninemia and severe catecholamine and serotonin deficiencies. We�…
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase: Unusual gene dosage effect in heterozygotes
CR Scriver, CL Clow, P Kaplan, A Niederwieser�- Human genetics, 1987 - Springer
We have identified deficient biopterin synthesis in four probands and one sib with persistent
postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign�…
postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign�…
Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6‐pyruvoyltetrahydropterin synthase
C Kluge, L Brecevic, CW Heizmann…�- European journal of�…, 1996 - Wiley Online Library
Autosomal recessive mutations in the 6‐pyruvoyltetrahydropterin synthase (PTPS) gene are
the most common reason for hyperphenylalaninemia due to tetrahydrobiopterin deficiency�…
the most common reason for hyperphenylalaninemia due to tetrahydrobiopterin deficiency�…
[CITATION][C] Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype
A Ponzone, N Blau, O Guardamagna…�- Journal of inherited�…, 1990 - Springer
Tetrahydrobiopterin (BH4), a cofactor of aromatic amino acid hydroxylases, is essential in
the degradation of phenylalanine (PHE) and in the biosynthesis of serotonin and�…
the degradation of phenylalanine (PHE) and in the biosynthesis of serotonin and�…
Identification of mutations causing 6‐pyruvoyl‐tetrahydropterin synthase deficiency in four Italian families
T Oppliger, B Th�ny, C Kluge, A Matasovic…�- Human�…, 1997 - Wiley Online Library
Pyruvoyl‐tetrahydrobiopterin synthase (PTPS) is involved in tetrahydrobiopterin (BH4)
biosynthesis, the cofactor for various enzymes including the hepatic phenylalanine�…
biosynthesis, the cofactor for various enzymes including the hepatic phenylalanine�…
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia
A Romstad, P Guldberg, N Blau, F Guttler�- Clinical chemistry, 1999 - academic.oup.com
Background: Deficiency of 6-pyruvoyltetrahydropterin synthase (PTPS) is a recessively
inherited disorder that leads to depletion of 5, 6, 7, 8-tetrahydrobiopterin, the obligatory�…
inherited disorder that leads to depletion of 5, 6, 7, 8-tetrahydrobiopterin, the obligatory�…
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency
TT Liu, KJ Hsiao�- Human genetics, 1996 - Springer
Deficiency in 6-pyruvoyl-tetrahydropterin synthase (PTPS) activity is the major cause of
tetrahydrobiopterin (BH 4)-deficient phenylketonuria. Two single base alterations of PTPS�…
tetrahydrobiopterin (BH 4)-deficient phenylketonuria. Two single base alterations of PTPS�…
Molecular basis for the phenotypic diversity of phenylketonuria
F G�ttler�- Pteridines, 1991 - degruyter.com
Phenylketonuria (PKU) is an autosomal recessive inherited deficiency of hepatic
phenylalanine hydroxylase (phenylalanine 4-monooxygenase: EC 1.14. 16.1; L�…
phenylalanine hydroxylase (phenylalanine 4-monooxygenase: EC 1.14. 16.1; L�…