Literature DB >> 2480478

Prenatal diagnosis of atypical phenylketonuria.

N Blau1, A Niederwieser, H C Curtius, L Kierat, W Leimbacher, A Matasovic, F Binkert, H Lehmann, D Leupold, O Guardamagna.   

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Year:  1989        PMID： 2480478     DOI： 10.1007/bf03335403

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


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  5 in total

Review 1.  Inborn errors of pterin metabolism.

Authors:  N Blau
Journal:  Annu Rev Nutr       Date:  1988       Impact factor: 11.848

2.  Prenatal diagnosis of "dihydrobiopterin synthetase" deficiency, a variant form of phenylketonuria.

Authors:  A Niederwieser; H Shintaku; T Hasler; H C Curtius; H Lehmann; O Guardamagna; H Schmidt
Journal:  Eur J Pediatr       Date:  1986-08       Impact factor: 3.183

Review 3.  Tetrahydrobiopterin biosynthetic pathway and deficiency.

Authors:  A Niederwieser; H C Curtius
Journal:  Enzyme       Date:  1987

4.  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

5.  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
  5 in total
  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.  Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects.

Authors:  H Shintaku; K J Hsiao; T T Liu; T Imamura; Y Hase; R G Chen; G Isshiki; T Oura
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  2 in total

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