Literature DB >> 4141026

Letter: A new molecular defect in phenylketonuria.

K Bartholome.   

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Year:  1974        PMID: 4141026     DOI: 10.1016/s0140-6736(74)90337-7

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  22 in total

1.  Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.

Authors:  J L Dhondt; P Guibaud; M O Rolland; C Dorche; S Andre; G Forzy; J M Hayte
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

2.  Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.

Authors:  H Gröbe; K Bartholome; S Milstien; S Kaufman
Journal:  Eur J Pediatr       Date:  1978-09-08       Impact factor: 3.183

Review 3.  Atypical cases of phenylketonuria.

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

Review 4.  Disorders of biopterin metabolism.

Authors:  Nicola Longo
Journal:  J Inherit Metab Dis       Date:  2009-02-09       Impact factor: 4.982

5.  Possible high frequency of tetrahydrobiopterin deficiency in south Brazil.

Authors:  L B Jardim; R Giugliani; J C Coelho; C S Dutra-Filho; N Blau
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.

Authors:  A Lipson; J Yu; M O'Halloran; M Potter; B Wilken
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 7.  Some metabolic relationships between biopterin and folate: implications for the "methyl trap hypothesis".

Authors:  S Kaufman
Journal:  Neurochem Res       Date:  1991-09       Impact factor: 3.996

8.  Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.

Authors:  J L Dhondt
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

9.  Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man.

Authors:  A Niederwieser; H C Curtius; M Wang; D Leupold
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

10.  Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.

Authors:  U Langenbeck
Journal:  J Inherit Metab Dis       Date:  2008-01-22       Impact factor: 4.982

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