Literature DB >> 3873535

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency.

J L Dhondt, J P Farriaux, A Boudha, C Largillière, J Ringel, M M Roger, R J Leeming.   

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Year:  1985        PMID： 3873535     DOI： 10.1016/s0022-3476(85)80251-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  2 in total

1.  Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.

Authors:  J L Dhondt; P Tilmont; J Ringel; J P Farriaux
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.

Authors:  I Kuznetcova; P Gundorova; O Ryzhkova; A Polyakov
Journal:  Metab Brain Dis       Date:  2019-07-22       Impact factor: 3.584
  2 in total

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