Literature DB >> 2452621

[Detection, differential diagnosis, and prenatal diagnosis of tetrahydrobiopterin deficiency].

A Niederwieser1, H C Curtius.   

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Year:  1987        PMID： 2452621

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


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  1 in total

1.  Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes.

Authors:  C R Scriver; C L Clow; P Kaplan; A Niederwieser
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132
  1 in total

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