Literature DB >> 3930876

Neonatal screening for dihydropteridine reductase deficiency.

A Sahota, J A Blair, P A Barford, R J Leeming, A Green, R J Pollitt.   

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Year:  1985        PMID： 3930876     DOI： 10.1007/bf01811477

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Malignant hyperphenylalaninaemia--current status (June 1977).

Authors:  D M Danks; K Bartholomé; B E Clayton; H Curtius; H Gröbe; S Kaufman; R Leeming; W Pfleiderer; H Rembold; F Rey
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.

Authors:  R J Leeming; P A Barford; J A Blair; I Smith
Journal:  Arch Dis Child       Date:  1984-01       Impact factor: 3.791

3.  Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.

Authors:  N Arai; K Narisawa; H Hayakawa; K Tada
Journal:  Pediatrics       Date:  1982-09       Impact factor: 7.124

Review 4.  Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.

Authors:  J L Dhondt
Journal:  J Pediatr       Date:  1984-04       Impact factor: 4.406
  4 in total
  2 in total

1.  Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.

Authors:  R A Armstrong; A Sahota; J A Blair; B E Cohen
Journal:  J Inherit Metab Dis       Date:  1986       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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