Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency (Q46865025)

25 December 2017

title

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency (English)

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25 December 2017

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5

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Diana Ballhausen

12

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Matthias R Baumgartner

13

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Nenad Blau

14

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author name string

Leandra Jäggi

1

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Marcel R Zurflüh

2

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Agnes Schuler

3

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Alberto Ponzone

4

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Laura Fiori

6

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Marcello Giovannini

7

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René Santer

8

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Georg F Hoffmann

9

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Hans Ibel

10

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Udo Wendel

11

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publication date

3 December 2007

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Molecular Genetics and Metabolism

number of pages

11

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based on heuristic

inferred from page(s)

published in

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volume

93

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issue

3

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page(s)

295-305

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Enzymology of the phenylalanine-hydroxylating system.

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

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Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies

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Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency

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Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations

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Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency

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Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

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Differential diagnosis of tetrahydrobiopterin deficiency

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Tetrahydrobiopterin induced neonatal tyrosinaemia

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Cranial computerized tomography in dihydropteridine reductase deficiency

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Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

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

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Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

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

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Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

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Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase

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Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.

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"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

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The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients

7 January 2021

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Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

7 January 2021

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Dihydropteridine reductase deficiency in man: from biology to treatment

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7 January 2021

Identifiers

DOI

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25 December 2017

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25 December 2017