Works matching DE "GLYCOGEN storage disease type I"
Results: 25
Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study.
- Published in:
- Histopathology, 2012, v. 60, n. 6B, p. E58, doi. 10.1111/j.1365-2559.2011.04153.x
- By:
- Publication type:
- Article
Glycogen Storage Disease 1 b: Diagnosis and Workup of a Novel Mutation.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis.
- Published in:
- Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2018, v. 17, n. 6, p. 903, doi. 10.5604/01.3001.0012.7189
- By:
- Publication type:
- Article
The Effect of Intercellular Adhesion Molecule-1 Gene Polymorphism on Atherosclerosis in Patients with Glycogen Storage Disease Type 1.
- Published in:
- Journal of Pediatric Research, 2015, v. 2, n. 1, p. 7, doi. 10.4274/jpr.09719
- By:
- Publication type:
- Article
Management of Athletes With G6PD Deficiency: Does Missing an Enzyme Mean Missing More Games?
- Published in:
- 2020
- By:
- Publication type:
- journal article
Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
- Published in:
- Journal of Genetics, 2017, v. 96, n. 1, p. 19, doi. 10.1007/s12041-016-0734-y
- By:
- Publication type:
- Article
IDENTIFICATION OF p.HIS119LEU MUTATION IN THE G6PC GENE OF A VIETNAMESE PATIENT WITH GLYCOGEN STORAGE DISEASE TYPE Ia.
- Published in:
- Journal of Biology / TẠp chí Sinh HỌc, 2020, v. 42, n. 2, p. 93, doi. 10.15625/2615-9023/v42n2.14898
- By:
- Publication type:
- Article
Gastric cancer following a liver transplantation for glycogen storage disease type Ia (von Gierke disease): A case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 350, doi. 10.1111/cge.13093
- By:
- Publication type:
- Article
Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2014, v. 17, n. 4, p. 239, doi. 10.5223/pghn.2014.17.4.239
- By:
- Publication type:
- Article
Glikojen depo tip 1a ve tip 1b olgular.
- Published in:
- Türk Pediatri Arşivi, 2013, v. 48, n. 2, p. 117, doi. 10.4274/tpa.185
- By:
- Publication type:
- Article
Drug fever caused by propofol in the intensive care unit.
- Published in:
- Journal of Anesthesia, 2015, v. 29, n. 5, p. 786, doi. 10.1007/s00540-015-2007-y
- By:
- Publication type:
- Article
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0301-2
- By:
- Publication type:
- Article
Liver transplantation in glycogen storage disease type I.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-47
- By:
- Publication type:
- Article
Challenges for achieving safe and effective radical cure of Plasmodium vivax: a round table discussion of the APMEN Vivax Working Group.
- Published in:
- Malaria Journal, 2017, v. 16, p. 1, doi. 10.1186/s12936-017-1784-1
- By:
- Publication type:
- Article
Continuous glucose monitoring in children with glycogen storage disease type I.
- Published in:
- European Journal of Clinical Nutrition, 2014, v. 68, n. 1, p. 101, doi. 10.1038/ejcn.2013.186
- By:
- Publication type:
- Article
GLYCOGEN STORAGE DISEASE TYPE 1B ASSOCIATED WITH A UNILATERAL HYPOPLASTIC TEMPORAL LOBE.
- Published in:
- Acta Endocrinologica (1841-0987), 2014, v. 10, n. 3, p. 530, doi. 10.4183/aeb.2014.530
- By:
- Publication type:
- Article
Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 1, p. 59, doi. 10.1007/s00431-014-2354-y
- By:
- Publication type:
- Article
Rare Diseases.
- Published in:
- 2017
- Publication type:
- Abstract
Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis.
- Published in:
- Hereditas, 2018, v. 155, n. 1, p. N.PAG, doi. 10.1186/s41065-018-0069-1
- By:
- Publication type:
- Article
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.
- Published in:
- Journal of Gastroenterology, 2014, v. 49, n. 8, p. 1274, doi. 10.1007/s00535-013-0890-2
- By:
- Publication type:
- Article
Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 4, p. 3251, doi. 10.3892/mmr.2016.5617
- By:
- Publication type:
- Article
Recoverable, Record-High Lactic Acidosis in a Patient with Glycogen Storage Disease Type 1: A Mixed Type A and Type B Lactate Disorder.
- Published in:
- Case Reports in Medicine, 2016, p. 1, doi. 10.1155/2016/4362743
- By:
- Publication type:
- Article
Glycogen storage disease type I: clinical and laboratory profile.
- Published in:
- Jornal de Pediatria, 2014, v. 90, n. 6, p. 572, doi. 10.1016/j.jped.2014.02.005
- By:
- Publication type:
- Article
Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b.
- Published in:
- BMC Gastroenterology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12876-015-0271-9
- By:
- Publication type:
- Article