(Q41616419)

English

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

scientific article published on April 16, 1979

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scholarly article

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Europe PubMed Central

5 October 2017

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

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2 July 2022

phenylketonuria

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based on heuristic

inferred from title

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based on heuristic

inferred from title

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author name string

H. C. Curtius

1

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2 July 2022

A. Niederwieser

2

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2 July 2022

M. Viscontini

3

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2 July 2022

A. Otten

4

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J. Schaub

5

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S. Scheibenreiter

6

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H. Schmidt

7

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2 July 2022

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publication date

1 April 1979

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16 April 1979

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2 July 2022

full work available at URL

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10.1016/0009-8981(79)90097-4

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15 May 2023

https://api.elsevier.com/content/article/PII:0009898179900974?httpAccept=text/plain

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10.1016/0009-8981(79)90097-4

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15 May 2023

Clinica Chimica Acta

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Europe PubMed Central

5 October 2017

93

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Europe PubMed Central

5 October 2017

251-262

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Europe PubMed Central

5 October 2017

2

1 reference

Europe PubMed Central

5 October 2017

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

3

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10.1016/0009-8981(79)90097-4

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15 May 2023

Letter: A new molecular defect in phenylketonuria

4

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10.1016/0009-8981(79)90097-4

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15 May 2023

Phenylketonuria due to a deficiency of dihydropteridine reductase

5

1 reference

10.1016/0009-8981(79)90097-4

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15 May 2023

Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria

6

1 reference

10.1016/0009-8981(79)90097-4

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15 May 2023

Archives francaises de pediatrie

7

34

109

author name string

Rey

publication date

1977

1 reference

10.1016/0009-8981(79)90097-4

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15 May 2023

Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria

8

1 reference

10.1016/0009-8981(79)90097-4

https://api.crossref.org/works/10.1016/0009-8981(79)90097-4

15 May 2023

Malignant hyperphenylalaninaemia—Current status (June 1977)

9

1 reference

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15 May 2023

Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan

10

1 reference

10.1016/0009-8981(79)90097-4

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

11

1 reference

10.1016/0009-8981(79)90097-4

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Phenylalanine hydroxylase of human liver: Assay and some properties

12

1 reference

10.1016/0009-8981(79)90097-4

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15 May 2023

In vivo determination of phenylalanine hydroxylase activity using heptadeutero-phenylalanine and comparison to the in vitro assay values

15

1 reference

10.1016/0009-8981(79)90097-4

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Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis

16

1 reference

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15 May 2023

Preparation and characterisation of pure 5,6,7,8-tetrahydro-L-neopterine and 5,6,7,8-tetrahydro-D-monapterine (author's transl)

20

1 reference

10.1016/0009-8981(79)90097-4

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Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

24

1 reference

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The phenylalanine hydroxylating system in phenylketonuria and its variants

27

1 reference

10.1016/0009-8981(79)90097-4

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Identification of dihydrofolate reductase in rabbit brain

28

1 reference

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The development and regional distribution of dihydrofolate reductase in rabbit brain

29

1 reference

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In vivo enhancement of tyrosine hydroxylation in rat striatum by tetrahydrobiopterin.

30

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15 May 2023

Biopterin : I. Profile and quantitation in rat brain.

31

1 reference

10.1016/0009-8981(79)90097-4

https://api.crossref.org/works/10.1016/0009-8981(79)90097-4

15 May 2023

Biopterin. III. Purification and characterization of enzymes involved in the cerebral synthesis of 7,8-dihydrobiopterin

32

1 reference

10.1016/0009-8981(79)90097-4

https://api.crossref.org/works/10.1016/0009-8981(79)90097-4

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Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients

33

1 reference

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https://api.crossref.org/works/10.1016/0009-8981(79)90097-4

15 May 2023

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10.1016/0009-8981(79)90097-4

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Europe PubMed Central

5 October 2017

release_62ycklebsbcdjhqkgiaucfj6tu

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24 November 2022

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5 October 2017

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