(Q40093530)

17 September 2017

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title

Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey (English)

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17 September 2017

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Dhondt JL

1

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17 September 2017

language of work or name

English

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publication date

1 April 1984

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The Journal of Pediatrics

17 September 2017

published in

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17 September 2017

volume

104

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17 September 2017

issue

4

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17 September 2017

page(s)

501-508

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Malignant hyperphenylalaninaemia—Current status (June 1977)

17 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Letter: A new molecular defect in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

A disorder of biogenic amines in dihydropteridine reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Malignant Hyperphenylalaninemia—Clinical Features, Biochemical Findings, and Experience with Administration of Biopterins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Hyperphenylalaniaemia due to dihydropteridine reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

A case of tetrahydrobiopterin deficiency due to a defective synthesis of dihydrobiopterin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

New aspects in biopterin biosynthesis in man

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Phenylketonuria due to a deficiency of dihydropteridine reductase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Biogenic Amine Synthesis Defect in Dihydropteridine Reductase Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

3'-hydroxysepiapterin in patients with dihydrobiopterin deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Biopterin defect in a normal-appearing child affected by a transient phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Phenylketonuria with a progressive neurological disorder not responsive to tetrahydrobiopterin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Normal pterin values in urine and serum in neonates and its age-related change throughout life

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Guanosine triphosphate cyclohydrolase I assay in human and rat liver using high-performance liquid chromatography of neopterin phosphates and guanine nucleotides

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Synthesis of biopterin from dihydroneopterin triphosphate by rat tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Dihydropteridine reductase may function in tetrahydrofolate metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Unconjugated pteridines in human milk

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980537-5

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(84)80537-5

1 reference

17 September 2017

1 reference