Works matching DE "GLYCOGEN storage disease"
Results: 731
Successful pregnancy in a woman with glycogen storage disease type III.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2006, v. 46, n. 2, p. 168, doi. 10.1111/j.1479-828X.2006.00549.x
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- Publication type:
- Article
Pulmonary Interstitial Glycogenosis: An Unrecognized Etiology of Persistent Pulmonary Hypertension of the Newborn in Congenital Heart Disease?
- Published in:
- 2013
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- Publication type:
- Report
Pulmonary Interstitial Glycogenosis Associated With Pulmonary Hypertension and Hypertrophic Cardiomyopathy.
- Published in:
- 2013
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- Publication type:
- Report
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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- Publication type:
- Article
High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.
- Published in:
- 2010
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- Publication type:
- Report
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.
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- Acta Neuropathologica, 2008, v. 116, n. 5, p. 491, doi. 10.1007/s00401-008-0417-8
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- Article
Caracterización de la calidad de vida en enfermedad huérfana de tipo glucogenosis tipo II.
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- Repertorio de Medicina y Cirugía, 2023, v. 32, p. 136, doi. 10.31260/RepertMedCir.01217372.1584
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- Article
Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Dental findings in a child with glycogen storage disease type IA.
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- Quintessence International, 2007, v. 38, n. 1, p. e36
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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
Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.
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- Echocardiography, 2017, v. 34, n. 4, p. 621, doi. 10.1111/echo.13490
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- Article
Approach to canine insulinoma.
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- Veterinary Ireland Journal, 2021, v. 11, n. 3, p. 172
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- Article
Cat breeds: the hidden problem of inherited diseases.
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- Veterinary Ireland Journal, 2019, v. 9, n. 3, p. 154
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- Article
Canine form of epilepsy could influence human research.
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- Veterinary Ireland Journal, 2017, v. 7, n. 9, p. 451
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- Article
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 2, p. 176, doi. 10.3390/brainsci12020176
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- Article
The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis.
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- Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 893, doi. 10.3390/biom14080893
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- Article
The Diagnostic Yield of Electromyography at Detecting Abnormalities on Muscle Biopsy: A Single Center Experience.
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- Neurodiagnostic Journal, 2021, v. 61, n. 2, p. 86, doi. 10.1080/21646821.2021.1916730
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- Article
A patient with hyperuricemia and renal failure:answer.
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- Pediatric Nephrology, 2007, v. 22, n. 7, p. 950, doi. 10.1007/s00467-007-0473-7
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- Publication type:
- Article
Urolithiasis and psoas abscess in a 2-year-old boy with type 1 glycogen storage disease.
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- Pediatric Nephrology, 2006, v. 21, n. 11, p. 1772, doi. 10.1007/s00467-006-0253-9
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- Article
Transforming growth factor-β in renal disease with glycogen storage disease I.
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- Pediatric Nephrology, 2004, v. 19, n. 6, p. 676, doi. 10.1007/s00467-004-1456-6
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- Article
No mutation in the SLC2A2 (GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.
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- Pediatric Nephrology, 2003, v. 18, n. 4, p. 397, doi. 10.1007/s00467-003-1085-5
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- Publication type:
- Article
Stoss therapy versus weekly regimen of vitamin D in children with chronic liver disease: a randomized pilot study.
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- Egyptian Liver Journal, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s43066-023-00249-9
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- Publication type:
- Article
A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.
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- Thyroid, 2019, v. 29, n. 8, p. 1158, doi. 10.1089/thy.2019.0007
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- Article
Asymptomatic Young Man with Danon Disease.
- Published in:
- 2014
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- Publication type:
- Case Study
Glutamate Cysteine Ligase--Modulatory Subunit Knockout Mouse Shows Normal Insulin Sensitivity but Reduced Liver Glycogen Storage.
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- Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00142
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- Article
A short note on types of nondiabetic hypoglycaemia.
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- African Journal of Diabetes Medicine, 2022, v. 30, n. 10, p. 1
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- Publication type:
- Article
Outcomes of Pediatric Liver Transplantation in Inherited Metabolic Diseases: A Single-center's Experience.
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- Medical Journal of Bakirkoy, 2022, v. 18, n. 1, p. 94, doi. 10.4274/BMJ.galenos.2022.2022.1-4
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- Publication type:
- Article
Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 55, doi. 10.1159/000351022
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- Article
Fasting Hypoglycaemia and Postprandial Hyperglycaemia as a Prodrome of Type 1 Diabetes Mellitus.
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- Hormone Research in Paediatrics, 2013, v. 78, n. 5/6, p. 332, doi. 10.1159/000337254
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- Publication type:
- Article
Yap signalling regulates ductular reactions in mice with CRISPR/Cas9-induced glycogen storage disease type Ia.
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- Animal Cells & Systems, 2022, v. 26, n. 6, p. 300, doi. 10.1080/19768354.2022.2139755
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- Article
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.
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- Genes, 2023, v. 14, n. 12, p. 2219, doi. 10.3390/genes14122219
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- Publication type:
- Article
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
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- Genes, 2023, v. 14, n. 10, p. 1967, doi. 10.3390/genes14101967
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- Publication type:
- Article
Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.
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- Genes, 2021, v. 12, n. 12, p. 1987, doi. 10.3390/genes12121987
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- Publication type:
- Article
Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
- Published in:
- 2021
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- Publication type:
- Case Study
The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1205, doi. 10.3390/genes12081205
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- Publication type:
- Article
Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.
- Published in:
- Genes, 2020, v. 11, n. 2, p. 135, doi. 10.3390/genes11020135
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- Publication type:
- Article
PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1.
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- Revista Paulista de Pediatria, 2019, v. 37, n. 4, p. 516, doi. 10.1590/1984-0462/;2019;37;4;00005
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- Article
Akt signaling pathway: a potential therapy for Alzheimer's disease through glycogen synthase kinase 3 beta inhibition.
- Published in:
- Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2023, v. 59, p. 1, doi. 10.1186/s41983-023-00751-2
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- Publication type:
- Article
Glycogen storage disease in adults.
- Published in:
- 1994
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- Publication type:
- journal article
Glikojen Depo Hastalığı Olan Pediyatrik Hastada Volatil Anestezi ve Kaudal Blok Uygulaması.
- Published in:
- 2009
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- Publication type:
- Case Study
Ground Glass-Like Inclusions: Associated with Liver Toxicity.
- Published in:
- Turkish Journal of Pathology, 2021, v. 37, n. 1, p. 51, doi. 10.5146/tjpath.2020.01510
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- Publication type:
- Article
Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report.
- Published in:
- 2022
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- Publication type:
- journal article
Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.
- Published in:
- Annals of Nutrition & Metabolism, 2020, v. 76, n. 4, p. 233, doi. 10.1159/000509335
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- Publication type:
- Article
Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth.
- Published in:
- Annals of Nutrition & Metabolism, 2010, v. 56, n. 3, p. 225, doi. 10.1159/000283242
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- Publication type:
- Article
Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.
- Published in:
- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0288965
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- Publication type:
- Article
Recomendações para o Diagnóstico da Forma Tardia da Doença de Pompe.
- Published in:
- Acta Médica Portuguesa, 2014, v. 27, n. 4, p. 525, doi. 10.20344/amp.5275
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- Publication type:
- Article
Lesão Renal Aguda e Rabdomiólise como Apresentação da Doença de Mcardle.
- Published in:
- 2013
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- Publication type:
- Case Study
Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy.
- Published in:
- Kidney International, 2014, v. 86, n. 4, p. 747, doi. 10.1038/ki.2014.102
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- Publication type:
- Article
Glycogen Storage Disease in Pediatric Population.
- Published in:
- Egyptian Journal of Hospital Medicine, 2018, v. 70, n. 12, p. 2067, doi. 10.12816/0045030
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- Publication type:
- Article