Literature DB >> 3234449

New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins.

N Blau, J L Dhondt, P Guibaud, T Kuster, H C Curtius.   

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Year:  1988        PMID： 3234449     DOI： 10.1007/bf00445941

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  2 in total

1.  Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.

Authors:  J L Dhondt; P Guibaud; M O Rolland; C Dorche; S Andre; G Forzy; J M Hayte
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

2.  Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.

Authors:  H C Curtius; T Kuster; A Matasovic; N Blau; J L Dhondt
Journal:  Biochem Biophys Res Commun       Date:  1988-06-16       Impact factor: 3.575
  2 in total
  2 in total

1.  Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.

Authors:  N Blau; L Kierat; H C Curtius; M Blaskovics; T Giudici
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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

Authors:  J L Dhondt
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  2 in total

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