(Q70586354)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6468427%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

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

1 reference

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12 October 2019

author name string

F Güttler

1

1 reference

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12 October 2019

H Lou

2

1 reference

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12 October 2019

C Lykkelund

3

1 reference

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12 October 2019

A Niederwieser

4

1 reference

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12 October 2019

publication date

1 June 1984

1 reference

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European Journal of Pediatrics

12 October 2019

published in

1 reference

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12 October 2019

volume

142

1 reference

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12 October 2019

issue

2

1 reference

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12 October 2019

page(s)

126-129

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https://scigraph.springernature.com/pub.10.1007/bf00445592

12 October 2019

exact match

0 references

cites work

On indications for treatment of the hyperphenylalaninemic neonate

1 reference

12 December 2020

Malignant hyperphenylalaninaemia—Current status (June 1977)

1 reference

12 December 2020

Partial deficiency of tetrahydrobiopterin

1 reference

12 December 2020

Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency

1 reference

12 December 2020

Strategies for detecting and characterizing restriction fragment length polymorphisms (RFLP's)

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria due to a deficiency of dihydropteridine reductase

1 reference

12 December 2020

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

1 reference

12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

12 December 2020

Serum tyrosine within the first hour after an oral load of phenylalanine

1 reference

12 December 2020

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

1 reference

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

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

1 reference

12 December 2020

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

1 reference

12 December 2020

Excretion of pterins in phenylketonuria and phenylketonuria variants

1 reference

12 December 2020

Phenylketonuria: past, present, future. F. P. Hudson Memorial Lecture, Leeds, 1979.

1 reference

12 December 2020

Results of Mass Screening for Hyperaminoacidemias in the Newborn Infant

1 reference

12 December 2020

Atypical phenylketonuria in sisters with normal offspring

1 reference

12 December 2020

Phenylalanine-hydroxylase activity in hyperphenylalaninaemia

1 reference

12 December 2020

Persistent mild hyperphenylalaninemia in the untreated state. A prospective study

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00445592

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6468427%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference