Literature DB >> 490246

Galactokinase deficiency and mental retardation.

S Segal, J Y Rutman, G W Frimpter.   

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Year:  1979        PMID： 490246     DOI： 10.1016/s0022-3476(79)80729-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  5 in total

1.  Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late-onset clinical symptoms.

Authors:  C Wolfrom; N Raynaud; N Kadhom; J Poggi; T Soni; M Gautier
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 2.  Clinical features of galactokinase deficiency: a review of the literature.

Authors:  A M Bosch; H D Bakker; A H van Gennip; J V van Kempen; R J A Wanders; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

3.  Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.

Authors:  Y K Xu; W G Ng; F R Kaufman; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 4.  Galactosemia unsolved.

Authors:  S Segal
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

5.  Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.

Authors:  Anja K Mayer; Ghassan Balousha; Rajech Sharkia; Muhammad Mahajnah; Suhail Ayesh; Martin Schulze; Rebecca Buchert; Ditta Zobor; Abdussalam Azem; Ludger Schöls; Peter Bauer; Bernd Wissinger
Journal:  Eur J Hum Genet       Date:  2020-01-02       Impact factor: 4.246
  5 in total

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