Literature DB >> 6422145

A defective enzyme in hyperphenylalaninaemia due to biopterin deficiency.

S Yoshioka, M Masada, T Yoshida, T Mizokami, M Akino, N Matsuo, T Tsuchiya, T Seki, S Arashima, M Kawaguchi.   

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Year:  1983        PMID： 6422145     DOI： 10.1007/bf01800745

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


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  6 in total

1.  Sepiapterin reductase in blood of various animals and of leukemic rats.

Authors:  S Katoh; Y Arai; T Taketani; S Yamada
Journal:  Biochim Biophys Acta       Date:  1974-12-29

2.  Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.

Authors:  H C Curtius; A Niederwieser; M Viscontini; A Otten; J Schaub; S Scheibenreiter; H Schmidt
Journal:  Clin Chim Acta       Date:  1979-04-16       Impact factor: 3.786

3.  Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.

Authors:  J C Nixon; C L Lee; S Milstien; S Kaufman; K Bartholomé
Journal:  J Neurochem       Date:  1980-10       Impact factor: 5.372

4.  The enzymatic synthesis of sepiapterin by chicken kidney preparations.

Authors:  K Tanaka; M Akino; Y Hagi; M Doi; T Shiota
Journal:  J Biol Chem       Date:  1981-03-25       Impact factor: 5.157

5.  Excretion of pterins in phenylketonuria and phenylketonuria variants.

Authors:  A Niederwieser; H C Curtius; R Gitzelmann; A Otten; K Baerlocher; B Blehovà; S Berlow; H Gröbe; F Rey; J Schaub; S Scheibenreiter; H Schmidt; M Viscontini
Journal:  Helv Paediatr Acta       Date:  1980-09

6.  Synthesis of biopterin from dihydroneopterin triphosphate by rat tissues.

Authors:  S I Yoshioka; M Masada; T Yoshida; K Inoue; T Mizokami; M Akino
Journal:  Biochim Biophys Acta       Date:  1983-04-20
  6 in total
  3 in total

1.  A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.

Authors:  P M Van Erven; F J Gabreëls; W Ruitenbeek; W O Renier; H J Ter Laak; A M Stadhouders
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-05       Impact factor: 10.154

2.  Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin.

Authors:  J L Dhondt; R G Cotton; D M Danks
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

3.  Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Authors:  C Morin; G Mitchell; J Larochelle; M Lambert; H Ogier; B H Robinson; M De Braekeleer
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025
  3 in total

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