Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants-Reference-Cited by-同舟云学术

Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants

Published:2017-08-09 Issue:2 Volume:93 Page:206-215
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Viggiano E.¹²^ORCID,Marabotti A.³⁴,Politano L.²,Burlina A.¹

Affiliation:

1. Division of Metabolic Diseases, Department of Paediatrics; University Hospital of Padua; Padua Italy

2. Cardiomyology and Medical Genetics, Department of Experimental Medicine; Second University of Naples; Naples Italy

3. Department of Chemistry and Biology “A. Zambelli”; University of Salerno; Salerno Italy

4. Interuniversity Center “ELFID”; University of Salerno; Fisciano Italy

Funder

University of Salerno FARB 2014

University of Salerno FARB 2015

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13030/fullpdf

Reference121 articles.

1. Structure and function of enzymes of the Leloir pathway for galactose metabolism;Holden;J Biol Chem,2003

2. Galactose toxicity in animals;Lai;IUBMB Life,2009

3. Identification of novel mutations in classical galactosemia;Bosch;Hum Mutat,2005

4. Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead;Pyhtila;JIMD Rep,2015

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