Literature DB >> 3060164

Inborn errors of pterin metabolism.

N Blau1.   

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Year:  1988        PMID： 3060164     DOI： 10.1146/annurev.nu.08.070188.001153

Source DB:  PubMed          Journal:  Annu Rev Nutr        ISSN： 0199-9885            Impact factor:   11.848


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  20 in total

1.  Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper.

Authors:  N Blau; L Kierat; C W Heizmann; W Endres; T Giudici; M Wang
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Study design and description of patients.

Authors:  P Lutz; H Schmidt; U Batzler
Journal:  Eur J Pediatr       Date:  1990       Impact factor: 3.183

3.  Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.

Authors:  A Ponzone; N Blau; O Guardamagna; G B Ferrero; I Dianzani; W Endres
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  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

5.  A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece.

Authors:  K H Schulpis; A Covanis; M Loumakou; N Frantzis; O Papandreou; A Divolli; S Missiou-Tsagaraki; L Kierat; N Blau
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

6.  International database of tetrahydrobiopterin deficiencies.

Authors:  N Blau; I Barnes; J L Dhondt
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

7.  Tetrahydrobiopterin induced neonatal tyrosinaemia.

Authors:  N Blau; M Beck; D Matern
Journal:  Eur J Pediatr       Date:  1996-09       Impact factor: 3.183

8.  Neurotransmitter metabolites in CSF: an external quality control scheme.

Authors:  C Bräutigam; C Weykamp; G F Hoffmann; R A Wevers
Journal:  J Inherit Metab Dis       Date:  2002-08       Impact factor: 4.982

9.  Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

Authors:  I Dianzani; D W Howells; A Ponzone; J A Saleeba; P M Smooker; R G Cotton
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

10.  Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

Authors:  A Ponzone; O Guardamagna; M Spada; S Ferraris; R Ponzone; L Kierat; N Blau
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183
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