Literature DB >> 3319636

Atypical cases of phenylketonuria.

J L Dhondt1, J P Farriaux.   

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Year:  1987        PMID： 3319636     DOI： 10.1007/BF00442055

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  37 in total

1.  Malignant hyperphenylalaninaemia--current status (June 1977).

Authors:  D M Danks; K Bartholomé; B E Clayton; H Curtius; H Gröbe; S Kaufman; R Leeming; W Pfleiderer; H Rembold; F Rey
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants.

Authors:  F Rey; F Blandin-Savoja; J Rey
Journal:  Pediatr Res       Date:  1979-01       Impact factor: 3.756

3.  Current status of biopterin screening.

Authors:  R Matalon
Journal:  J Pediatr       Date:  1984-04       Impact factor: 4.406

4.  [Partial deficiency of tetrahydrobiopterin].

Authors:  F Rey; J M Saudubray; R J Leeming; A Niederwieser; H C Curtius; J Rey
Journal:  Arch Fr Pediatr       Date:  1983

5.  Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia.

Authors:  J L Dhondt; J P Farriaux
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

6.  Letter: A new molecular defect in phenylketonuria.

Authors:  K Bartholome
Journal:  Lancet       Date:  1974-12-28       Impact factor: 79.321

7.  Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity.

Authors:  K Bartholomé; D J Byrd
Journal:  Lancet       Date:  1975-11-22       Impact factor: 79.321

8.  Diagnostic and therapeutic aspects of dihydrobiopterin deficiency.

Authors:  B Beck; N J Brandt; E Christensen; A Niederwieser; P S Pedersen
Journal:  Acta Paediatr Scand       Date:  1983-05

9.  Dihydrobiopterin biosynthesis deficiency.

Authors:  J L Dhondt; B Leroux; J P Farriaux; C Largilliere; R J Leeming
Journal:  Eur J Pediatr       Date:  1983-12       Impact factor: 3.183

10.  Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.

Authors:  F A Firgaira; K H Choo; R G Cotton; D M Danks
Journal:  Biochem J       Date:  1981-09-15       Impact factor: 3.857
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  1 in total

1.  Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.

Authors:  D DiSilvestre; R Koch; J Groffen
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025
  1 in total

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