Works matching DE "GLYCOGEN storage disease"
Results: 727
Brain Glycogen—Its Metabolic Role in Neuronal Health and Neurological Disorders—An Extensive Narrative Review.
- Published in:
- Metabolites (2218-1989), 2025, v. 15, n. 2, p. 128, doi. 10.3390/metabo15020128
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- Publication type:
- Article
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.
- Published in:
- Clinical & Experimental Nephrology, 2011, v. 15, n. 5, p. 745, doi. 10.1007/s10157-011-0456-7
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- Publication type:
- Article
Can hyperuricemia predict glycogen storage disease (McArdle's disease) in rheumatology practice? (Myogenic hyperuricemia).
- Published in:
- Clinical Rheumatology, 2019, v. 38, n. 10, p. 2941, doi. 10.1007/s10067-019-04572-8
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- Publication type:
- Article
Icaritin and icariin reduce p-Tau levels in a cell model of Alzheimer's disease by downregulating glycogen synthase kinase 3β.
- Published in:
- Biotechnology & Applied Biochemistry, 2022, v. 69, n. 1, p. 355, doi. 10.1002/bab.2114
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- Publication type:
- Article
Novel method for detection of glycogen in cells.
- Published in:
- Glycobiology, 2017, v. 27, n. 5, p. 416, doi. 10.1093/glycob/cwx005
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- Publication type:
- Article
Personalized management of hepatic glycogen storage disorders: The role of continuous glucose monitoring.
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- Journal of Pediatric Gastroenterology & Nutrition, 2025, v. 80, n. 1, p. 151, doi. 10.1002/jpn3.12391
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- Publication type:
- Article
Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07070-z
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- Publication type:
- Article
Role in Tumor Growth of a Glycogen Debranching Enzyme Lost in Glycogen Storage Disease.
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- JNCI: Journal of the National Cancer Institute, 2014, v. 106, n. 5, p. 1, doi. 10.1093/jnci/dju062
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- Publication type:
- Article
Cardiac comorbidities in McArdle disease: case report and systematic review.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 10, p. 4757, doi. 10.1007/s10072-024-07600-x
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- Publication type:
- Article
A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa.
- Published in:
- 2021
- By:
- Publication type:
- Letter
A rare case of multiple sclerosis and McArdle disease.
- Published in:
- 2015
- By:
- Publication type:
- Letter
5<sup>th</sup> RARE DISEASE SOUTH EASTERN EUROPE (SEE) MEETING, SKOPJE, MACEDONIA (NOVEMBER 15<sup>th</sup>, 2016).
- Published in:
- 2017
- By:
- Publication type:
- Proceeding
Inhibition of glycogenolysis prolongs action potential repriming period and impairs muscle function in rat skeletal muscle.
- Published in:
- Journal of Physiology, 2020, v. 598, n. 4, p. 789, doi. 10.1113/JP278543
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- Publication type:
- Article
Fructose and metabolic health: governed by hepatic glycogen status?
- Published in:
- Journal of Physiology, 2019, v. 597, n. 14, p. 3573, doi. 10.1113/JP277767
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- Publication type:
- Article
In‐Line CRRT via Centrifugal Flow RVAD for Management of AKI During Mechanical Circulatory Support of End‐Stage Heart Disease.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-75524-9
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- Publication type:
- Article
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 2, p. 176, doi. 10.3390/brainsci12020176
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- Publication type:
- Article
The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 893, doi. 10.3390/biom14080893
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- Publication type:
- Article
OC18.01: Whole‐genome sequencing for fetal structural anomalies.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 51, doi. 10.1002/uog.23906
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- Publication type:
- Article
Successful treatment of diabetes associated with glycogen storage disease type Ia.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Hepatic glycogenosis: abnormal liver function tests in Type 1 diabetes.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1422908
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- Publication type:
- Article
Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis.
- Published in:
- International Journal of Organ Transplantation Medicine, 2017, v. 8, n. 4, p. 217
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- Publication type:
- Article
Asymptomatic Young Man with Danon Disease.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
A BRIEF REVIEW ON MCARDLE DISEASE (GLYCOGEN STORAGE DISEASE TYPE V).
- Published in:
- Pharma Science Monitor, 2014, v. 5, n. 3, p. 110
- By:
- Publication type:
- Article
Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1145111
- By:
- Publication type:
- Article
Dynamic Methods for Childhood Hypoglycemia Phenotyping: A Narrative Review.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.858832
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- Publication type:
- Article
A short note on types of nondiabetic hypoglycaemia.
- Published in:
- African Journal of Diabetes Medicine, 2022, v. 30, n. 10, p. 1
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- Publication type:
- Article
GLYCOGEN STORAGE DISEASE - TYPE 3.
- Published in:
- Pediatric Oncall Journal, 2024, v. 21, n. 1, p. 59, doi. 10.7199/ped.oncall.2024.8
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- Publication type:
- Article
Yap signalling regulates ductular reactions in mice with CRISPR/Cas9-induced glycogen storage disease type Ia.
- Published in:
- Animal Cells & Systems, 2022, v. 26, n. 6, p. 300, doi. 10.1080/19768354.2022.2139755
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- Publication type:
- Article
Inborn errors of metabolism and anesthesia; so far, yet so close.
- Published in:
- Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2013, v. 41, n. 4, p. 243
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- Publication type:
- Article
Effectiveness of liver biopsy in diagnosing liver diseases using a five-point diagnostic scale among pediatric population.
- Published in:
- Professional Medical Journal, 2025, v. 32, n. 1, p. 112, doi. 10.29309/TPMJ/2025.32.01.8587
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- Publication type:
- Article
Treatment outcomes on growth of children diagnosed with glycogen storage disease presenting to national institute of child health, Karachi, Pakistan.
- Published in:
- Professional Medical Journal, 2023, v. 30, n. 11, p. 1445, doi. 10.29309/TPMJ/2023.30.11.7690
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- Publication type:
- Article
Clinical, biochemical and radiological findings in children with glycogen storage disease.
- Published in:
- Professional Medical Journal, 2023, v. 30, n. 10, p. 1324, doi. 10.29309/TPMJ/2023.30.10.7667
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- Publication type:
- Article
Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2015, v. 24, n. 4, p. 515, doi. 10.15403/jgld.2014.1121.244.had
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- Publication type:
- Article
Lactate production and clearance in exercise. Effects of training. A mini-review.
- Published in:
- Scandinavian Journal of Medicine & Science in Sports, 1998, v. 8, n. 3, p. 127, doi. 10.1111/j.1600-0838.1998.tb00181.x
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- Publication type:
- Article
Correction: Hepatic glycogen storage diseases are associated to microbial dysbiosis.
- Published in:
- PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0218254
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- Publication type:
- Article
Hepatic glycogen storage diseases are associated to microbial dysbiosis.
- Published in:
- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0214582
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- Publication type:
- Article
G6PD deficiency in blood donors of Manaus, Amazon Region, northern Brazil.
- Published in:
- International Journal of Laboratory Hematology, 2021, v. 43, n. 6, p. e290, doi. 10.1111/ijlh.13574
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- Publication type:
- Article
Modification to reporting of qualitative fluorescent spot test results improves detection of glucose-6-phosphate dehydrogenase (G6PD)-deficient heterozygote female newborns.
- Published in:
- International Journal of Laboratory Hematology, 2011, v. 33, n. 5, p. 463, doi. 10.1111/j.1751-553X.2011.01309.x
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- Publication type:
- Article
A case of glycogen storage disease type II with double aortic arch.
- Published in:
- Acta Paediatrica, 2000, v. 89, n. 7, p. 883, doi. 10.1080/080352500750043837
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- Publication type:
- Article
Identification and characterisation of a new human glucose-6-phosphatase isoform
- Published in:
- FEBS Letters, 2003, v. 551, n. 1-3, p. 159, doi. 10.1016/S0014-5793(03)00903-7
- By:
- Publication type:
- Article
Postoperative acute respiratory failure caused by adult‐onset Pompe disease.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Inborn Errors of Metabolism in Elderly Adults.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
New drugs.
- Published in:
- American Journal of Health-System Pharmacy, 2006, v. 63, n. 12, p. 1117
- Publication type:
- Article
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Glycogenosis type V or McArdle's disease.
- Published in:
- Developmental Medicine & Child Neurology, 2003, v. 45, n. 9, p. 640, doi. 10.1017/S0012162203001178
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- Publication type:
- Article
The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.
- Published in:
- FASEB Journal, 2008, v. 22, n. 7, p. 2206, doi. 10.1096/fj.07-104851
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- Publication type:
- Article
Workshop W04: Glycogen: a static or dynamic energy source?
- Published in:
- 2005
- By:
- Publication type:
- Abstract
Danon disease: Rare cause of cardiomyopathy.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 12, p. 1288, doi. 10.33963/v.kp.97064
- By:
- Publication type:
- Article