Literature DB >> 6707819

Current status of biopterin screening.

R Matalon.   

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Year:  1984        PMID： 6707819     DOI： 10.1016/s0022-3476(84)80551-x

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


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  6 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.  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

Review 3.  Atypical cases of phenylketonuria.

Authors:  J L Dhondt; J P Farriaux
Journal:  Eur J Pediatr       Date:  1987       Impact factor: 3.183

4.  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

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

Authors:  A Niederwieser; H Shintaku; W Leimbacher; H C Curtius; J Hyànek; J Zeman; W Endres
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

6.  Differential diagnosis of tetrahydrobiopterin deficiency.

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

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