Literature DB >> 6349574

[Partial deficiency of tetrahydrobiopterin].

F Rey, J M Saudubray, R J Leeming, A Niederwieser, H C Curtius, J Rey.   

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Year:  1983        PMID： 6349574

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


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  10 in total

1.  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

Review 2.  Atypical cases of phenylketonuria.

Authors:  J L Dhondt; J P Farriaux
Journal:  Eur J Pediatr       Date:  1987       Impact factor: 3.183

3.  Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.

Authors:  R J Leeming; P A Barford; J A Blair; I Smith
Journal:  Arch Dis Child       Date:  1984-01       Impact factor: 3.791

4.  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

Review 5.  Pteridines and mono-amines: relevance to neurological damage.

Authors:  I Smith; D W Howells; K Hyland
Journal:  Postgrad Med J       Date:  1986-02       Impact factor: 2.401

6.  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

7.  "Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

Authors:  A Niederwieser; H Shintaku; W Leimbacher; H C Curtius; J Hyànek; J Zeman; W Endres
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

8.  Neurological aspects of biopterin metabolism.

Authors:  I Smith; R J Leeming; N P Cavanagh; K Hyland
Journal:  Arch Dis Child       Date:  1986-02       Impact factor: 3.791

9.  Differential diagnosis of tetrahydrobiopterin deficiency.

Authors:  A Niederwieser; A Ponzone; H C Curtius
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

10.  Biopterin, neopterin and tyrosine responses to combined oral phenylalanine and tetrahydrobiopterin loading tests in two normal children and in a girl with partial biopterin deficiency.

Authors:  C Lykkelund; H C Lou; V Rasmussen; F Güttler; A Niederwieser
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  10 in total

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