Galactose Epimerase Deficiency: Expanding the Phenotype-Reference-Cited by-同舟云学术

Galactose Epimerase Deficiency: Expanding the Phenotype

Published:2017 Issue: Volume: Page:19-25
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Dias Costa Filipa,Ferdinandusse Sacha,Pinto Carla,Dias Andrea,Keldermans Liesbeth,Quelhas Dulce,Matthijs Gert,Mooijer Petra A.,Diogo Luísa,Jaeken Jaak,Garcia Paula

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2017_10

Reference17 articles.

1. Alano A, Almashanu S, Chinsky JM et al (1998) Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J Inher Metab Dis 21:341–350

2. Charlwood J, Clayton P, Keir G, Mian N, Winchester B (1998) Defective galactosylation of serum transferrin in galactosemia. Glycobiology 8(4):351–357

3. Fridovich-Keil J (2013) Epimerase deficiency galactosemia. In: GeneReviews at GeneTests medical genetics information resource (database online). Copyright, University of Washington, Seattle. 1993–2016. http://www.genetests.org . Accessed 29 Jan 2016

4. Gitzelmann R (1972) Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication. Helv Paediatr Acta 27:125–130

5. Henderson MJ, Holton JB, MacFaul R (1983) Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. J Inherit Metab Dis 6:17–20

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