(Q52074881)

English

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

scientific article published in May 1987

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

6

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

author name string

A Niederwieser

1

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

H Shintaku

2

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

W Leimbacher

3

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

H C Curtius

4

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

J Hyànek

5

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

W Endres

7

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

publication date

1 May 1987

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

European Journal of Pediatrics

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Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

146

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

3

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

228-232

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

Current status of biopterin screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial deficiency of tetrahydrobiopterin

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of "dihydrobiopterin synthetase" deficiency, a variant form of phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dihydrobiopterin biosynthesis deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The enzymatic conversion of dihydroneopterin triphosphate to tripolyphosphate and 6-pyruvoyl-tetrahydropterin, an intermediate in the biosynthesis of other pterins in Drosophila melanogaster.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of tetrahydrobiopterin: conversion of dihydroneopterin triphosphate to tetrahydropterin intermediates

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of tetrahydrobiopterin in man.

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygote detection in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3297709

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00716465

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 April 2018

http://europepmc.org/abstract/MED/3297709

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