Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control-Reference-Cited by-同舟云学术

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

Published:2017-04-10 Issue:5 Volume:40 Page:695-702
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Peeks Fabian,Steunenberg Thomas A. H.,de Boer Foekje,Rubio-Gozalbo M. Estela,Williams Monique,Burghard Rob,Rajas Fabienne,Oosterveer Maaike H.,Weinstein David A.,Derks Terry G. J.

Funder

Junior Scientific Masterclass, Graduate School GUIDE, University Medical Center Groningen, University of Groningen, the Netherlands

Dr. Philip Lee Scholarship, through the Glycogen Storage Disease Program, Department of Pediatrics, University of Florida

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0039-1/fulltext.html

Reference27 articles.

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2. Bali DS, Chen YT, Goldstein JL. Glycogen storage disease: type I. Genereviews (6):736

3. Bier DM, Leake RD, Haymond MW, Arnold KJ, Gruenke LD, Sperling MA et al (1977) Measurement of “true” glucose production rates in infancy and childhood with 6,6-dideuteroglucose. Diabetes 26(11):1016–1023

4. Bruni NN, Rajas F, Montano S, Chevalier-Porst F, Maire I, Mithieux G (1999) Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a. Ann Hum Genet 63(Pt):141–146

5. Cassiman D, Libbrecht L, Verslype C, Meersseman W, Troisi R, Zucman-Rossi J et al (2010) An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild glycogen storage disease type Ia. J Hepatol 53(1):213–217

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