Literature DB >> 2710367

Late onset of distinct neurologic syndromes in galactosemic siblings.

J H Friedman1, H L Levy, R M Boustany.   

Abstract

We discuss siblings with galactose-1-phosphate uridyl transferase deficiency who developed neurologic complications after the age of 30. One has partial complex seizures and the other has generalized seizures, progressive ataxia, and apraxia. As more galactosemic children survive into adulthood, more neurologic complications may become more prevalent.

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Year:  1989        PMID: 2710367     DOI: 10.1212/wnl.39.5.741

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  7 in total

Review 1.  Regulation of galactose metabolism: implications for therapy.

Authors:  S Segal; S Rogers
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia.

Authors:  Björn Hoffmann; Udo Wendel; Susanne Schweitzer-Krantz
Journal:  J Inherit Metab Dis       Date:  2011-02-24       Impact factor: 4.982

3.  The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency.

Authors:  G T Berry; M Palmieri; K C Gross; P B Acosta; J A Henstenburg; A Mazur; R Reynolds; S Segal
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 4.  Galactose toxicity in animals.

Authors:  Kent Lai; Louis J Elsas; Klaas J Wierenga
Journal:  IUBMB Life       Date:  2009-11       Impact factor: 3.885

5.  Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Authors:  J K Reichardt; S Packman; S L Woo
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

Review 6.  Galactosemia unsolved.

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

7.  Galactosemia and phantom absence seizures.

Authors:  Zeynep Aydin-Özemir; Pınar Tektürk; Zehra Oya Uyguner; Betül Baykan
Journal:  J Pediatr Neurosci       Date:  2014 Sep-Dec
  7 in total

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