Literature DB >> 6848731

Speech and language deficits in early-treated children with galactosemia.

S E Waisbren, T R Norman, R R Schnell, H L Levy.   

Abstract

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Year:  1983        PMID： 6848731     DOI： 10.1016/s0022-3476(83)80292-3

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


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  26 in total

1.  Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.

Authors:  Gerard T Berry; Louis J Elsas
Journal:  J Inherit Metab Dis       Date:  2010-11-30       Impact factor: 4.982

2.  Long-term prognosis in galactosaemia: results of a survey of 350 cases.

Authors:  D D Waggoner; N R Buist; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases.

Authors:  Fiona M Lewis; David J Coman; Maryann Syrmis; Sarah Kilcoyne; Bruce E Murdoch
Journal:  JIMD Rep       Date:  2012-12-29

4.  Deficit of uridine diphosphate galactose in galactosaemia.

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

5.  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

6.  Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins.

Authors:  H Böhles; D Wenzel; Y S Shin
Journal:  Eur J Pediatr       Date:  1986-10       Impact factor: 3.183

7.  Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

Authors:  Ilona Milánkovics; Agnes Schuler; Eniko Kámory; Béla Csókay; Flóra Fodor; Csilla Somogyi; Krisztina Németh; György Fekete
Journal:  Wien Klin Wochenschr       Date:  2010-02       Impact factor: 1.704

8.  Voice disorders in children with classic galactosemia.

Authors:  Nancy L Potter
Journal:  J Inherit Metab Dis       Date:  2010-09-30       Impact factor: 4.982

9.  A common mutation associated with the Duarte galactosemia allele.

Authors:  L J Elsas; P P Dembure; S Langley; E M Paulk; L N Hjelm; J Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

10.  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
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