(Q42256394)

English

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

scientific article published on February 1984

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scholarly article

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Europe PubMed Central

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18 October 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6734669%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

0 references

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hyperphenylalaninemia

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

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18 October 2019

author name string

A Niederwieser

1

1 reference

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18 October 2019

M Wang

3

1 reference

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18 October 2019

P Joller

4

1 reference

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18 October 2019

M Atarés

5

1 reference

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18 October 2019

J Cardesa-Garcia

6

1 reference

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18 October 2019

language of work or name

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publication date

1 February 1984

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18 October 2019

European Journal of Pediatrics

1 reference

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18 October 2019

141

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18 October 2019

4

1 reference

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18 October 2019

208-214

1 reference

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18 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00572762

0 references

Malignant hyperphenylalaninaemia—Current status (June 1977)

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic and therapeutic aspects of dihydrobiopterin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of tetrahydrobiopterin by de novo and salvage pathways in adrenal medulla extracts, mammalian cell cultures, and rat brain in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

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/6734669

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/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mass fragmentography of dopamine and 6-hydroxydopamine. Application to the determination of dopamine in human brain biopsies from the caudate nucleus

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

3'-hydroxysepiapterin in patients with dihydrobiopterin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylketonuria due to a deficiency of dihydropteridine reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biopterin. III. Purification and characterization of enzymes involved in the cerebral synthesis of 7,8-dihydrobiopterin

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo studies of the tryptophan-5-hydroxylase system. Quantitation of serotonin and tryptamine using gas chromatography-mass fragmentography

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial purification of 6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropterin triphosphate synthetase from chicken liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

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/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biopterin cofactor biosynthesis: independent regulation of GTP cyclohydrolase in adrenal medulla and cortex

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural and metabolic relationship between the molybdenum cofactor and urothione

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased urinary excretion of neopterin in patients with malignant tumors and with virus diseases (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Amino acid analysis in clinical chemistry]

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characteristics of guanosine triphosphate cyclohydrolase I purified from Escherichia coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Excretion of pterins in phenylketonuria and phenylketonuria variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/6734669

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00572762

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6734669%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6734669%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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