(Q43696615)

English

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

scientific article published in June 2001

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

2

1 reference

Europe PubMed Central

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25 November 2017

12

1 reference

Europe PubMed Central

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25 November 2017

author name string

L J Spaapen

1

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

C Velter

3

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

W Loots

4

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

M E Rubio-Gozalbo

5

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

P P Forget

6

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

L Dorland

7

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

T J De Koning

8

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

B T Poll-The

9

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

H K Ploos van Amstel

10

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

J Bekhof

11

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

M Duran

13

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

publication date

1 June 2001

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

25 November 2017

24

1 reference

Europe PubMed Central

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25 November 2017

3

1 reference

Europe PubMed Central

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25 November 2017

352-358

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of reduced forms of biopterin in biological tissues and fluids

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neopterin and biopterin levels in patients with atypical forms of phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dihydropteridine reductase activity in eluates from dried blood spots: automation of an assay for a national screening service

1 reference

https://pubmed.ncbi.nlm.nih.gov/11486900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1010596317296

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

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