The natural history of classic galactosemia: lessons from the GalNet registry-Reference-Cited by-同舟云学术

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The natural history of classic galactosemia: lessons from the GalNet registry

Published:2019-04-27 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Rubio-Gozalbo M. E.^ORCID,Haskovic M.,Bosch A. M.,Burnyte B.,Coelho A. I.,Cassiman D.,Couce M. L.,Dawson C.,Demirbas D.,Derks T.,Eyskens F.,Forga M. T.,Grunewald S.,Häberle J.,Hochuli M.,Hubert A.,Huidekoper H. H.,Janeiro P.,Kotzka J.,Knerr I.,Labrune P.,Landau Y. E.,Langendonk J. G.,Möslinger D.,Müller-Wieland D.,Murphy E.,Õunap K.,Ramadza D.,Rivera I. A.,Scholl-Buergi S.,Stepien K. M.,Thijs A.,Tran C.,Vara R.,Visser G.,Vos R.,de Vries M.,Waisbren S. E.,Welsink-Karssies M. M.,Wortmann S. B.,Gautschi M.,Treacy E. P.,Berry G. T.

Funder

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Dutch Galactosemia Research foundation

European Galactosemia Society

Metakids

Stofwisselkracht

Health Research Board

British inherited Metabolic Disease Group

Batzebar foundation

Galaktosamie Schweiz patient organization

Spanish Galactosemia foundation

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1047-z.pdf

Reference55 articles.

1. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. In: GeneReviews®; 2000. updated 2017.

2. Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, et al. Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment. J Inherit Metab Dis. 2013;36(1):21.

3. Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum Mutat. 2007;28(10):939.

4. Mason HH, Turner ME. Chronic galactemia, report of case with studies on carbohydrates. Am J Dis Child. 1935;50(2):359.

5. Isselbacher KJ, Anderson EP, Kurahashi K, Kalckar HM. Congenital galactosemia, a single enzymatic block in galactose metabolism. Science. 1956;123(3198):635–6.

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