Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test (Q70493463)

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scientific article published on 01 August 1993

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English	Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test	scientific article published on 01 August 1993

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instance of

scholarly article

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Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

title

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

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

author

Nenad Blau

series ordinal

7

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stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

author name string

A Ponzone

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

O Guardamagna

series ordinal

2

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stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

M Spada

series ordinal

3

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stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

S Ferraris

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

R Ponzone

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

L Kierat

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

publication date

1 August 1993

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Europe PubMed Central

PubMed publication ID

8404969

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

retrieved

11 October 2019

published in

European Journal of Pediatrics

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stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

volume

152

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Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

issue

8

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stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

page(s)

655-661

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Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

cites work

Inborn errors of pterin metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for malignant phenylketonuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primapterinuria: a new variant of atypical phenylketonuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dihydrobiopterin biosynthesis deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letter: Variant forms of phenylketonuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of malignant hyperphenylalaninaemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential diagnosis of tetrahydrobiopterin deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8404969

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF01955242

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

PubMed publication ID

8404969

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8404969

reference URL

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

retrieved

11 October 2019

 

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