(Q28235979)

Crossref

https://api.crossref.org/works/10.1007%2FS10545-009-1067-2

Letter: A new molecular defect in phenylketonuria

21 January 2018

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12 December 2020

THE STRUCTURE OF THE PHENYLALANINE-HYDROXYLATION COFACTOR

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12 December 2020

Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin

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12 December 2020

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients

1 reference

12 December 2020

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency

1 reference

12 December 2020

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms

1 reference

12 December 2020

Atypical phenylketonuria with normal dihydropteridine reductase activity

1 reference

12 December 2020

Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy

1 reference

12 December 2020

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

1 reference

12 December 2020

A murine model for human sepiapterin-reductase deficiency

1 reference

12 December 2020

Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria

1 reference

12 December 2020

Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid

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12 December 2020

New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction

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12 December 2020

Phenylketonuria due to a deficiency of dihydropteridine reductase

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12 December 2020

Glyceryl ether monooxygenase resembles aromatic amino acid hydroxylases in metal ion and tetrahydrobiopterin dependence

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12 December 2020

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

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12 December 2020

Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?

1 reference

12 December 2020

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

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12 December 2020

Preparation and characterisation of pure 5,6,7,8-tetrahydro-L-neopterine and 5,6,7,8-tetrahydro-D-monapterine (author's transl)

1 reference

12 December 2020

Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis

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12 December 2020

A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.

1 reference

12 December 2020

Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.

1 reference

12 December 2020

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

1 reference

12 December 2020

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

1 reference

12 December 2020

Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids

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12 December 2020

Crystal structure of the stimulatory complex of GTP cyclohydrolase I and its feedback regulatory protein GFRP.

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12 December 2020

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

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12 December 2020

Folinic acid therapy in treatment of dihydropteridine reductase deficiency.

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12 December 2020

Cerebrospinal fluid biopterin and biogenic amine metabolites during oral R-THBP therapy for infantile autism

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12 December 2020

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

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12 December 2020

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

1 reference

12 December 2020

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

12 December 2020

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

1 reference

12 December 2020

Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

1 reference

12 December 2020

Genotype-phenotype correlation in dihydropteridine reductase deficiency

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12 December 2020

7-Substituted pterins: formation during phenylalanine hydroxylation in the absence of dehydratase

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12 December 2020

Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.

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12 December 2020

Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.

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12 December 2020

Vascular protection by tetrahydrobiopterin: progress and therapeutic prospects

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12 December 2020

Cranial computerized tomography in dihydropteridine reductase deficiency

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12 December 2020

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

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12 December 2020