Works matching Glycogen storage disease type I
Results: 134
Glycogen storage disease type I: clinical and laboratory profile.
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- Jornal de Pediatria, 2014, v. 90, n. 6, p. 572, doi. 10.1016/j.jped.2014.02.005
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- Article
Liver transplantation in glycogen storage disease type I.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-47
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- Article
Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study.
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- Pediatric Gastroenterology, Hepatology & Nutrition, 2014, v. 17, n. 4, p. 239, doi. 10.5223/pghn.2014.17.4.239
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- Article
Continuous glucose monitoring in children with glycogen storage disease type I.
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- European Journal of Clinical Nutrition, 2014, v. 68, n. 1, p. 101, doi. 10.1038/ejcn.2013.186
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- Article
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.
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- Journal of Gastroenterology, 2014, v. 49, n. 8, p. 1274, doi. 10.1007/s00535-013-0890-2
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- Article
Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study.
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- Histopathology, 2012, v. 60, n. 6B, p. E58, doi. 10.1111/j.1365-2559.2011.04153.x
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- Article
MOLECULAR DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE I: A REVIEW.
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- EXCLI Journal, 2019, v. 18, p. 30, doi. 10.17179/excli2018-1877
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- Article
Glikojen depo tip 1a ve tip 1b olgular.
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- Türk Pediatri Arşivi, 2013, v. 48, n. 2, p. 117, doi. 10.4274/tpa.185
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- Article
Drug fever caused by propofol in the intensive care unit.
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- Journal of Anesthesia, 2015, v. 29, n. 5, p. 786, doi. 10.1007/s00540-015-2007-y
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- Article
Novel Approaches in Glycogen Storage Disease Type I Management: Harnessing the Potential of Micronutrients and Macro Molecules.
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- International Journal of Pharmaceutical Investigation, 2024, v. 14, n. 1, p. 141, doi. 10.5530/ijpi.14.1.18
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- Article
Renal sonographic findings of type I glycogen storage disease in infancy and early childhood.
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- Pediatric Radiology, 2005, v. 35, n. 8, p. 786, doi. 10.1007/s00247-005-1478-7
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- Article
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I.
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- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 5/6, p. 427, doi. 10.1515/jpem-2012-0306
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- Article
Impact of glycogen storage disease type I on adult daily life: a survey.
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- 2021
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- Publication type:
- journal article
Chlorogenic Acid, a Potential Glucose-6-Phosphatase Inhibitor: An Approach to Develop a Pre-Clinical Glycogen Storage Disease Type I Model.
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- Indian Journal of Pharmaceutical Education & Research, 2024, v. 58, p. S372, doi. 10.5530/ijper.58.2s.40
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- Article
The Effect of Intercellular Adhesion Molecule-1 Gene Polymorphism on Atherosclerosis in Patients with Glycogen Storage Disease Type 1.
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- Journal of Pediatric Research, 2015, v. 2, n. 1, p. 7, doi. 10.4274/jpr.09719
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- Article
Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis.
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- 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
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- Article
Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.
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- Human Molecular Genetics, 2022, v. 31, n. 6, p. 914, doi. 10.1093/hmg/ddab297
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- Article
Liver transplantation in glycogen storage disease type I.
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- 2014
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- journal article
How many forms of glycogen storage disease type I?
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- 2000
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- journal article
Liver transplantation for glycogen storage disease types I, III, and IV.
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- European Journal of Pediatrics, 1999, v. 158, n. 14, p. S043, doi. 10.1007/PL00014320
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- Article
Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?
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- Journal of Current Pediatrics / Guncel Pediatri, 2023, v. 21, n. 3, p. 228, doi. 10.4274/jcp.2023.56255
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- Article
Ocular Changes of Glycogen Storage Disease Type I.
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- Ophthalmologica, 1995, v. 209, n. 2, p. 92, doi. 10.1159/000310588
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- Article
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report.
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- 2016
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- Case Study
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA.
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- 2012
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- Publication type:
- Report
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
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- Clinical Genetics, 2018, v. 93, n. 2, p. 350, doi. 10.1111/cge.13093
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- Article
Hyperfiltration and renal disease in glycogen storage disease, type I.
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- Kidney International, 1989, v. 35, n. 6, p. 1345, doi. 10.1038/ki.1989.133
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- Article
Progressive development of renal cysts in glycogen storage disease type I.
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- Human Molecular Genetics, 2016, v. 25, n. 17, p. 3784, doi. 10.1093/hmg/ddw224
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- Article
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.
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- 2020
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- journal article
Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.
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- 2021
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- journal article
Hypercalcemia in glycogen storage disease type I patients of Turkish origin.
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- Turkish Journal of Pediatrics, 2012, v. 54, n. 1, p. 35
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- Article
TYPE I GLYCOGEN STORAGE DISEASE - CASE PRESENTATION.
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- Acta Medica Marisiensis, 2019, v. 65, p. 17
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- Article
Safety and Efficacy of DTX401, an AAV8‐Mediated Liver‐Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
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- Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70014
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- Article
Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization.
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- Calcified Tissue International, 2024, v. 115, n. 5, p. 661, doi. 10.1007/s00223-024-01302-4
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- Article
Lipid status and linear relationship between total cholesterol and triglycerides in glycogen storage disease type I.
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- European Review for Medical & Pharmacological Sciences, 2020, v. 24, n. 19, p. 10036
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- Article
THE HEMOSTATIC DEFECT IN GLYCOGEN STORAGE DISEASE, TYPE I.
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- Acta Paediatrica, 1968, v. 57, n. 3, p. 205, doi. 10.1111/j.1651-2227.1968.tb04679.x
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- 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.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0301-2
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- Publication type:
- Article
A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0229-6
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- Publication type:
- Article
A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.
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- 2015
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- Publication type:
- journal article
GLYCOGEN STORAGE DISEASE TYPE 1B ASSOCIATED WITH A UNILATERAL HYPOPLASTIC TEMPORAL LOBE.
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- Acta Endocrinologica (1841-0987), 2014, v. 10, n. 3, p. 530, doi. 10.4183/aeb.2014.530
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- Article
Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
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- Journal of Genetics, 2017, v. 96, n. 1, p. 19, doi. 10.1007/s12041-016-0734-y
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- Article
Psychosocial Functioning in Youth with Glycogen Storage Disease Type I.
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- Journal of Pediatric Psychology, 2008, v. 33, n. 7, p. 728, doi. 10.1093/jpepsy/jsn017
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- Article
Insulin secretion in type I glycogen storage disease.
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- 1969
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- journal article
Gastric cancer following a liver transplantation for glycogen storage disease type Ia (von Gierke disease): A case report.
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- 2014
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- Case Study
Management of Athletes With G6PD Deficiency: Does Missing an Enzyme Mean Missing More Games?
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- 2020
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- journal article
Increased long-chain polyunsaturated derivatives in erythrocyte membranes of children treated for glycogen storage disease type I.
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- 1994
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- Publication type:
- Letter
Challenges for achieving safe and effective radical cure of Plasmodium vivax: a round table discussion of the APMEN Vivax Working Group.
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- Malaria Journal, 2017, v. 16, p. 1, doi. 10.1186/s12936-017-1784-1
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- Publication type:
- Article
Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results.
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- Nutrients, 2024, v. 16, n. 19, p. 3244, doi. 10.3390/nu16193244
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- Article
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
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- Clinical Genetics, 2024, v. 106, n. 3, p. 267, doi. 10.1111/cge.14530
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- Article
Early Introduction of Uncooked Cornstarch for the Treatment of Glycogen Storage Disease Type I.
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- Acta Paediatrica, 1990, v. 79, n. 10, p. 978, doi. 10.1111/j.1651-2227.1990.tb11366.x
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- Article
Glycogen Storage Disease Type I and III and Pyruvate Carboxylase Deficiency: Results of Long-Term Treatment with Uncooked Cornstarch.
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- Acta Paediatrica, 1988, v. 77, n. 4, p. 531, doi. 10.1111/j.1651-2227.1988.tb10695.x
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- Publication type:
- Article