Literature DB >> 6893440

3'-hydroxysepiapterin in patients with dihydrobiopterin deficiency.

A Niederwieser, A Matasović, H C Curtius, W Endres, J Schaub.   

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Year:  1980        PMID: 6893440     DOI: 10.1016/0014-5793(80)80243-2

Source DB:  PubMed          Journal:  FEBS Lett        ISSN: 0014-5793            Impact factor:   4.124


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  4 in total

1.  Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver.

Authors:  A Niederwieser; W Leimbacher; H C Curtius; A Ponzone; F Rey; D Leupold
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

2.  Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man.

Authors:  A Niederwieser; H C Curtius; M Wang; D Leupold
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

3.  GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

Authors:  A Niederwieser; N Blau; M Wang; P Joller; M Atarés; J Cardesa-Garcia
Journal:  Eur J Pediatr       Date:  1984-02       Impact factor: 3.183

4.  Differential diagnosis of tetrahydrobiopterin deficiency.

Authors:  A Niederwieser; A Ponzone; H C Curtius
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

  4 in total

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