{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["40(5)"],"submitter":["Peeks F"],"funding":["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"],"pubmed_abstract":["<h4>Objective</h4>To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase).<h4>Study design</h4>Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes. To display subtle variations for repeated triglyceride measurements with respect to time for individual patients, CUSUM-analysis graphs were constructed.<h4>Results</h4>Patients with different homozygous G6PC mutations showed important differences in height, BMI, and biochemical parameters (i.e., lactate, uri"],"journal":["Journal of inherited metabolic disease"],"pagination":["695-702"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5579135"],"repository":["biostudies-literature"],"pubmed_title":["Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control."],"pmcid":["PMC5579135"],"pubmed_authors":["Williams M","Peeks F","Burghard R","Derks TGJ","Weinstein DA","de Boer F","Oosterveer MH","Rajas F","Steunenberg TAH","Rubio-Gozalbo ME"],"additional_accession":[]},"is_claimable":false,"name":"Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.","description":"<h4>Objective</h4>To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase).<h4>Study design</h4>Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes. To display subtle variations for repeated triglyceride measurements with respect to time for individual patients, CUSUM-analysis graphs were constructed.<h4>Results</h4>Patients with different homozygous G6PC mutations showed important differences in height, BMI, and biochemical parameters (i.e., lactate, uri","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Sep","modification":"2025-04-19T05:19:04.296Z","creation":"2019-03-27T02:55:07Z"},"accession":"S-EPMC5579135","cross_references":{"pubmed":["28397058"],"doi":["10.1007/s10545-017-0039-1"]}}