Literature DB >> 4856897

Proceedings: Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment.

I Smith, J Lloyd.   

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Year:  1974        PMID: 4856897      PMCID: PMC1648690          DOI: 10.1136/adc.49.3.245-b

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


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  11 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.  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

3.  Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

Authors:  I Dianzani; D W Howells; A Ponzone; J A Saleeba; P M Smooker; R G Cotton
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

Review 4.  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

5.  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

6.  Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.

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

7.  [Molecular basis for the heterogeneity of phenylketonuria].

Authors:  K Bartholomé
Journal:  Naturwissenschaften       Date:  1980-10

8.  Differential diagnosis of tetrahydrobiopterin deficiency.

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

9.  Hyperphenylalaninaemia caused by defects in biopterin metabolism.

Authors:  S Kaufman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

10.  Successful long term therapy of biopterin deficiency.

Authors:  S E Snyderman; C Sansaricq; M T Pulmones
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

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