Literature DB >> 445845

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

H C Curtius, A Niederwieser, M Viscontini, A Otten, J Schaub, S Scheibenreiter, H Schmidt.   

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Year:  1979        PMID： 445845     DOI： 10.1016/0009-8981(79)90097-4

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  25 in total

1.  Study design and description of patients.

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

2.  Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.

Authors:  R G Cotton; I Jennings; G Bracco; A Ponzone; O Guardamagna
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency.

Authors:  R G Cotton
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver.

Authors:  A Niederwieser; W Leimbacher; H C Curtius; A Ponzone; F Rey; D Leupold
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

5.  Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan.

Authors:  K Tada; H Tateda; S Arashima; K Sakai; T Kitagawa; K Aoki; S Suwa; M Kawamura; T Oura; M Takesada
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

6.  Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.

Authors:  F Güttler; H Lou; C Lykkelund; A Niederwieser
Journal:  Eur J Pediatr       Date:  1984-06       Impact factor: 3.183

7.  Biosynthesis of tetrahydrobiopterin by de novo and salvage pathways in adrenal medulla extracts, mammalian cell cultures, and rat brain in vivo.

Authors:  C A Nichol; C L Lee; M P Edelstein; J Y Chao; D S Duch
Journal:  Proc Natl Acad Sci U S A       Date:  1983-03       Impact factor: 11.205

8.  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

9.  Normal pterin values in urine and serum in neonates and its age-related change throughout life.

Authors:  H Shintaku; G Isshiki; Y Hase; T Tsuruhara; T Oura
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

10.  Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.

Authors:  P Lutz; H Schmidt; G Frey; H Bickel
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982
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