Results 21 to 30 of about 67,076 (344)

Glycogen storage disease type I.

New England Journal of Medicine, 1986
Glycogen storage diseases (GSD) are inherited autosomal recessive disorder. Type-I GSD (Von Gierkes disease) is due to glucose6-phosphatase defect, which mainly affects liver and is life threatening if not treated.
Pattar Ramesh, Basavaraj Sajjan
semanticscholar   +3 more sources

Glycogen storage disease type I: clinical and laboratory profile

Jornal de Pediatria (Versão em Português), 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   +9 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 ...
Emily E. Czapek, Daniel Deykin, Edwin W. Salzman   +2 more
semanticscholar   +5 more sources

Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study. [PDF]

JIMD Rep, 2014
Sechi A, Deroma L, Paci S, Lapolla A, Carubbi F, Burlina A, Rigoldi M, Di Rocco M.   +7 more
europepmc   +4 more sources

Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. [PDF]

Mol Clin Oncol, 2016
Malignant transformation of hepatocellular adenoma (HA) is relatively rare and has been reported to be associated with dysregulation of the β-catenin pathway. The presence of bone marrow metaplasia in HA is an uncommon histological characteristic.
Iguchi T, Yamagata M, Sonoda T, Yanagita K, Fukahori T, Tsujita E, Aishima S, Oda Y, Maehara Y.   +8 more
europepmc   +2 more sources

Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina

Journal of Inborn Errors of Metabolism and Screening, 2021
Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complications.
Verónica Bindi, Hernán D. Eiroa, Carolina Crespo, María Martinez, Luisa Bay   +4 more
doaj   +2 more sources

Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. [PDF]

JIMD Rep, 2015
Beegle RD, Brown LM, Weinstein DA.
europepmc   +2 more sources

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. [PDF]

JIMD Rep, 2016
Ross KM, Brown LM, Corrado MM, Chengsupanimit T, Curry LM, Ferrecchia IA, Porras LY, Mathew JT, Weinstein DA.   +8 more
europepmc   +2 more sources

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study [PDF]

Journal of Inherited Metabolic Disease, 2015
Michel Hochuli, Emanuel Christ, Fabian Meienberg, Roger Lehmann, Jan Krützfeldt, Matthias R. Baumgartner   +5 more
openalex   +2 more sources

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant [PDF]

JIMD Reports
Glycogen storage disease type III (GSD III) is an inborn error of carbohydrate metabolism with an autosomal recessive inheritance pattern. Phenotypically, patients can manifest a broad clinical spectrum.
Nuria Puente‐Ruiz, Saru Palaniappan, Alison Woodall, Robert Cooper, Allyson Terry, Andrew Oldham, Abigail Rousseau, Christopher Campbell, Pradeep Vasudevan, Karolina M. Stepien   +9 more
doaj   +2 more sources