(Q70493463)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8404969%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

title

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test (English)

1 reference

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11 October 2019

7

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11 October 2019

author name string

A Ponzone

1

1 reference

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11 October 2019

O Guardamagna

2

1 reference

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11 October 2019

M Spada

3

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11 October 2019

S Ferraris

4

1 reference

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11 October 2019

R Ponzone

5

1 reference

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11 October 2019

L Kierat

6

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11 October 2019

publication date

1 August 1993

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European Journal of Pediatrics

11 October 2019

published in

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11 October 2019

volume

152

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11 October 2019

issue

8

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11 October 2019

page(s)

655-661

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https://scigraph.springernature.com/pub.10.1007/bf01955242

11 October 2019

exact match

0 references

cites work

Inborn errors of pterin metabolism

1 reference

12 December 2020

Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment

1 reference

12 December 2020

Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria

1 reference

12 December 2020

Screening for malignant phenylketonuria

1 reference

12 December 2020

Primapterinuria: a new variant of atypical phenylketonuria

1 reference

12 December 2020

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

1 reference

12 December 2020

Dihydrobiopterin biosynthesis deficiency

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

Letter: Variant forms of phenylketonuria

1 reference

12 December 2020

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

1 reference

12 December 2020

Diagnosis of malignant hyperphenylalaninaemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency

1 reference

12 December 2020

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

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

Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein

1 reference

12 December 2020

Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience

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

Differential diagnosis of tetrahydrobiopterin deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01955242

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8404969%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference