(Q28203798)

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Nitric oxide: a physiologic messenger molecule

7 January 2021

1 reference

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International database of tetrahydrobiopterin deficiencies

7 January 2021

1 reference

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Tetrahydrobiopterin biosynthesis, regeneration and functions

7 January 2021

1 reference

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Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis

7 January 2021

1 reference

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Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin

7 January 2021

1 reference

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Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies

7 January 2021

1 reference

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Folinic acid therapy in treatment of dihydropteridine reductase deficiency.

7 January 2021

1 reference

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High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins

7 January 2021

1 reference

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Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

7 January 2021

1 reference

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Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine

7 January 2021

1 reference

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7 January 2021

Phenylketonuria variants

1 reference

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Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

7 January 2021

1 reference

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Screening for inherited metabolic diseases and congenital hypothyroidism in 4,744 mentally retarded school children in Taiwan

7 January 2021

1 reference

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Current status of neonatal screening in China

7 January 2021

1 reference

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Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan

7 January 2021

1 reference

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Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme

7 January 2021

1 reference

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cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase

7 January 2021

1 reference

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Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase

7 January 2021

1 reference

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Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

7 January 2021

1 reference

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Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients

7 January 2021

1 reference

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Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

7 January 2021

1 reference

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Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency

7 January 2021

1 reference

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Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency

7 January 2021

1 reference

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Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans

7 January 2021

1 reference

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The CpG dinucleotide and human genetic disease

7 January 2021

1 reference

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Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency

7 January 2021

1 reference

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Structure and expression of human dihydropteridine reductase

7 January 2021

1 reference

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Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

7 January 2021

1 reference

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The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency

7 January 2021

1 reference

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NcoI and HinfI RFLPs detected with a dihydropteridine reductase cDNA probe

7 January 2021

1 reference

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Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probe

7 January 2021

1 reference

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Molecular basis of dihydropteridine reductase deficiency

7 January 2021

1 reference

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Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

7 January 2021

1 reference

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A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.

7 January 2021

1 reference

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Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects

7 January 2021

1 reference

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Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity

7 January 2021

1 reference

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