(Q70399075)

English

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

scientific article published on 01 March 1982

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference

based on heuristic

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author name string

A Niederwieser

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

H C Curtius

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

M Wang

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

D Leupold

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

publication date

1 March 1982

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

138

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

110-112

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00441135

0 references

Malignant hyperphenylalaninaemia—Current status (June 1977)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: A new molecular defect in phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New aspects in biopterin biosynthesis in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

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/7094929

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/7094929

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/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

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/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

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/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biopterin : I. Profile and quantitation in rat brain.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathogenesis of phenylketonuria: Inhibition of dopa and catecholamine synthesis in patients with phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peripherally Administered Reduced Pterins Do Enter the Brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The enzymatic synthesis of sepiapterin by chicken kidney preparations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

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/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylketonuria variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A disorder of biogenic amines in dihydropteridine reductase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7094929

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00441135

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7094929%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

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