Literature DB >> 3930875

Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases.

R Longhi, E Riva, R Valsasina, S Paccanelli, M Giovannini.   

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Year:  1985        PMID： 3930875     DOI： 10.1007/bf01811476

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


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  5 in total

1.  Diagnosis of variant forms of hyperphenylalaninemia using filter paper spots of urine.

Authors:  K Narisawa; H Hayakawa; N Arai; N Matsuo; T Tanaka; K Naritomi; K Tada
Journal:  J Pediatr       Date:  1983-10       Impact factor: 4.406

2.  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

3.  Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.

Authors:  N Arai; K Narisawa; H Hayakawa; K Tada
Journal:  Pediatrics       Date:  1982-09       Impact factor: 7.124

Review 4.  Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.

Authors:  J L Dhondt
Journal:  J Pediatr       Date:  1984-04       Impact factor: 4.406

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
  5 in total
  2 in total

1.  Cranial computerized tomography in dihydropteridine reductase deficiency.

Authors:  R Longhi; R Valsasina; C Buttè; S Paccanelli; E Riva; M Giovannini
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

2.  Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.

Authors:  Mahoko Furujo; Masako Kinoshita; Yozo Ichiba; Anne Romstad; Haruo Shintaku; Toshihide Kubo
Journal:  Epilepsy Behav Case Rep       Date:  2014-03-13
  2 in total

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