Literature DB >> 8869397

Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

P Ninfali1, N Bresolin, B Dallapiccola, G Novelli.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8869397     DOI： 10.1007/bf00878541

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  3 in total

1.  Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Authors:  J K Reichardt; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205

2.  Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.

Authors:  N Bresolin; G P Comi; F Fortunato; G Meola; A Gallanti; A Tajana; M Velicogna; E F Gonano; P Ninfali; S Pifferi
Journal:  J Neurol       Date:  1993-05       Impact factor: 4.849

3.  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
  3 in total
  1 in total

Review 1.  Galactose toxicity in animals.

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

北京卡尤迪生物科技股份有限公司 © 2022-2023.