Results 21 to 30 of about 65,519 (325)

Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study [PDF]

BMC Pediatrics
Background Growth retardation is common in glycogen storage disease (GSD), though the relative contributions of hormonal and metabolic factors remain unclear.
Xiaohui Wu, Yueyu Sun, Min Yang
doaj   +2 more sources

Liver transplantation in glycogen storage disease type I. [PDF]

Orphanet J Rare Dis, 2014
Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the complex.
Boers SJ, Visser G, Smit PG, Fuchs SA.
europepmc   +5 more sources

Glycogen storage disease type I: clinical and laboratory profile

Jornal de Pediatria, 2014
Objectives: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism.
Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz   +7 more
doaj   +8 more sources

Brain Damage in Glycogen Storage Disease Type I

Pediatric Neurology Briefs, 2004
The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
doaj   +7 more sources

Liver transplantation for glycogen storage disease types I, III, and IV [PDF]

, 1999
Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver transplantation.
Arnaout, W, Barnard, J, Bynon, JS, Chen, YT, Dhawan, A, Emond, J, Haagsma, EB, Hug, G, Lachaux, A, Matern, D, Smit, GPA, Starzl, TE   +11 more
core   +4 more sources

Liver transplantation for type I and type IV glycogen storage disease [PDF]

European Journal of Pediatrics, 1993
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period.
A. G. Tzakis, AS Guerra, B Illingworth, B. I. Brown, BI Brown, BI Brown, BI Brown, CA Alper, D Raum, DA Merrill, E. Yunis, GA Bannayan, GB Reed, GM Greene, GT Cori, H Zellweger, HG Hers, HL Greene, IT Ferguson, JJ Malatack, JJ Siekierka, KR McMaster, MW Harding, N Kashiwagi, N Kashiwagi, R. S. Kendall, R. Selby, RC Nordlie, S Servidei, S. Todo, T Ishihara, T. E. Starzl, TE Starl, TE Starzl, TE Starzl, TE Starzl, TE Starzl, V Mazzaferro   +37 more
core   +4 more sources

Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study [PDF]

Orphanet Journal of Rare Diseases, 2021
Background and aims Glycogen storage disease type I (GSD-I) is an autosomal recessive disorder of carbohydrate metabolism, resulting in limited production of glucose and excessive glycogen storage in the liver and kidneys.
Yi-Chia Chan, Kai-Min Liu, Chao-Long Chen, Aldwin D. Ong, Chih-Che Lin, Chee-Chien Yong, Pei-Chun Tsai, Liang-Suei Lu, Jer-Yuarn Wu   +8 more
doaj   +4 more sources

Platelet Dysfunction in Glycogen Storage Disease Type I [PDF]

Blood, 1973
Abstract A hemorrhagic tendency has been observed in patients with glycogen storage disease Type I (GSD-I). We have studied the hemostatic mechanism in six patients with GSD-I who have mild to severe bleeding tendencies. All exhibited abnormalities of platelet function (decreased prothrombin consumption, abnormal aggregation reactions ...
E E, Czapek, D, Deykin, E W, Salzman
openaire   +3 more sources

Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report. [PDF]

Cureus, 2023
Elouali A, N'joumi C, Bennani A, Rkain M, Babakhouya A.   +4 more
europepmc   +3 more sources

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy. [PDF]

Hum Mol Genet, 2022
Monteillet L, Labrune P, Hochuli M, Do Cao J, Tortereau A, Miliano AC, Ardon-Zitoun C, Duchampt A, Silva M, Verzieux V, Mithieux G, Rajas F.   +11 more
europepmc   +3 more sources