Literature DB >> 8051934

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

H Shintaku1, K J Hsiao, T T Liu, T Imamura, Y Hase, R G Chen, G Isshiki, T Oura.   

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Year:  1994        PMID： 8051934     DOI： 10.1007/bf00735427

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


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  3 in total

1.  Prenatal diagnosis of atypical phenylketonuria.

Authors:  N Blau; A Niederwieser; H C Curtius; L Kierat; W Leimbacher; A Matasovic; F Binkert; H Lehmann; D Leupold; O Guardamagna
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

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

3.  Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers.

Authors:  H Shintaku; A Niederwieser; W Leimbacher; H C Curtius
Journal:  Eur J Pediatr       Date:  1988-01       Impact factor: 3.183
  3 in total

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