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1Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency
المؤلفون: Jordi Duran, Giorgia Testoni, Jerzy Duszyński, Malgorzata Bejtka, Dominika Malinska, Joan J. Guinovart
المصدر: Biochimie. 186
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Respiratory chain, Mitochondria, Liver, Mitochondrion, Biochemistry, Mitochondrial Proteins, 03 medical and health sciences, chemistry.chemical_compound, Electron Transport Complex III, Glycogen Storage Disease Type IV, Mice, Internal medicine, Glycogen branching enzyme, medicine, Animals, Glycogen storage disease type IV, Cell damage, chemistry.chemical_classification, Mice, Knockout, Reactive oxygen species, 030102 biochemistry & molecular biology, biology, Glycogen, Chemistry, Glycogen Debranching Enzyme System, General Medicine, medicine.disease, Glycogen Branching Enzyme Deficiency, 030104 developmental biology, Endocrinology, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc0f6741370d8eba7608c817fc2f3286Test
https://pubmed.ncbi.nlm.nih.gov/33857563Test -
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المؤلفون: Ramiro Castro Apolo, Preet Varade, Jaspreet Johal, Michael W Johnson, Adam Edwards Md, Michael R Persch, Hussam A. Yacoub
المصدر: Hospital practice (1995). 50(3)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, 030204 cardiovascular system & hematology, Quadriplegia, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Dementia, Humans, 030212 general & internal medicine, Aged, medicine.diagnostic_test, business.industry, Leukodystrophy, Magnetic resonance imaging, General Medicine, Adult polyglucosan body disease, medicine.disease, Glycogen Storage Disease, Hyperintensity, Glycogen Branching Enzyme Deficiency, Peripheral neuropathy, Muscle Spasticity, Nervous System Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d77dc7efbc956f11113443cf35ee778Test
https://pubmed.ncbi.nlm.nih.gov/33412965Test -
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المؤلفون: Alicja Brudnicka, Jordi Duran, Joan J. Guinovart, Giorgia Testoni, Jerzy Duszyński, Dominika Malinska
المصدر: Archives of biochemistry and biophysics. 695
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Aging, Biophysics, Gene mutation, medicine.disease_cause, Biochemistry, Protein Carbonylation, 03 medical and health sciences, chemistry.chemical_compound, Glycogen Storage Disease Type IV, Mice, Internal medicine, Glycogen branching enzyme, medicine, Animals, Glycogen storage disease type IV, Molecular Biology, chemistry.chemical_classification, Mice, Knockout, Glutathione Peroxidase, Electron Transport Complex I, 030102 biochemistry & molecular biology, biology, Glycogen, Glutathione peroxidase, Glycogen Debranching Enzyme System, Glutathione, medicine.disease, Glycogen Branching Enzyme Deficiency, Oxidative Stress, 030104 developmental biology, Endocrinology, chemistry, Liver, biology.protein, Oxidative stress
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f8f922114fd63657e3a60015789bbdfTest
https://pubmed.ncbi.nlm.nih.gov/33049291Test -
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المؤلفون: Ami M. Perri, Saija Ahonen, Xiaochu Zhao, Lori Israelian, Felix Nitschke, Cameron Ackerley, Berge A. Minassian, Mitchell A. Sullivan, Sharmistha Mitra, Laura F. DiGiovanni, Erin E. Chown, Mackenzie Chown, Peixiang Wang
مصطلحات موضوعية: 0303 health sciences, biology, Glycogen, Hyperphosphorylation, medicine.disease, Lafora disease, Ubiquitin ligase, Cell biology, Glycogen Branching Enzyme Deficiency, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Glycogen branching enzyme, biology.protein, medicine, Glycogen synthase, Laforin, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9c5e6cd2df8cccc6a673ffc341fb8fTest
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5
المؤلفون: Peres Ramos Badial, Diego José Zanzarini Delfiol, César Erineudo Tavares de Araújo, José P. Oliveira-Filho, João Pessoa Araújo-Junior, Alexandre Secorun Borges
المساهمون: Universidade Estadual Paulista (Unesp), Universidade Federal de Uberlândia (UFU), Mississippi State Univ
المصدر: Web of Science
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESPمصطلحات موضوعية: 0301 basic medicine, Veterinary medicine, 040301 veterinary sciences, Nonsense mutation, Population, Prevalence, Physiology, Hereditary disease, 0403 veterinary science, 03 medical and health sciences, biology.animal, education, Muscle disease, education.field_of_study, Autosome, biology, Equine, Incidence (epidemiology), Abortion, 04 agricultural and veterinary sciences, Foal, Glycogen Branching Enzyme Deficiency, 030104 developmental biology, Herd, Glycogen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5735519944a5cff2c500d344cdb8b33Test
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المؤلفون: Mehar Chand Sharma, Chitra Sarkar, Vaishali Suri, Aanchal Kakkar, Aruna Nambirajan, Sheffali Gulati
المصدر: Ultrastructural Pathology. 39:293-297
مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, Pathology, medicine.medical_specialty, Weakness, Biopsy, Pathology and Forensic Medicine, Glycogen Storage Disease Type IV, chemistry.chemical_compound, Microscopy, Electron, Transmission, Structural Biology, Glycogen branching enzyme, Humans, Medicine, Child, Muscle, Skeletal, Muscle biopsy, medicine.diagnostic_test, biology, Glycogen, business.industry, Dilated cardiomyopathy, medicine.disease, Immunohistochemistry, Congenital myopathy, Glycogen Branching Enzyme Deficiency, Basophilic, chemistry, biology.protein, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c5ff5ca54ebf180b59eb8db1d41e4e4Test
https://doi.org/10.3109/01913123.2015.1014612Test -
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المؤلفون: Yi-Ching Lee, Yuan-Tsong Chen, Chia Jung Chang, Deeksha Bali, Yu-Ting Yan
المصدر: Human Molecular Genetics. 20:455-465
مصطلحات موضوعية: Heart Defects, Congenital, Programmed cell death, medicine.medical_specialty, Hydrops Fetalis, Amylopectin, Genes, myc, Fluorescent Antibody Technique, Cell Cycle Proteins, Biology, Polymerase Chain Reaction, Glycogen Storage Disease Type IV, Mice, chemistry.chemical_compound, Heart Rate, 1,4-alpha-Glucan Branching Enzyme, Hydrops fetalis, Internal medicine, Genetics, medicine, Animals, Ventricular Function, Cyclin D1, Myocytes, Cardiac, Glycogen storage disease type IV, Molecular Biology, Genetics (clinical), Cell Proliferation, Heart Failure, Fetus, Glycogen, Heart, Sequence Analysis, DNA, General Medicine, Cell cycle, medicine.disease, Glycogen Branching Enzyme Deficiency, Endocrinology, chemistry, Heart failure, Codon, Terminator, Embryo Loss
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::705eae2fc07f748c46a5d5242125d60eTest
https://doi.org/10.1093/hmg/ddq492Test -
8Muscular weakness and recumbency in a Quarter Horse colt due to glycogen branching enzyme deficiency
المؤلفون: James R. Mickelson, Beatrice T. Sponseller, Amanda J. Fales-Williams, Tara L. Ward, Stephanie J. Valberg
المصدر: Equine Veterinary Education. 15:182-188
مصطلحات موضوعية: medicine.medical_specialty, biology, Equine, business.industry, biology.animal_breed, Muscular weakness, Horse, Glycogen Branching Enzyme Deficiency, Endocrinology, Foal, Quarter horse, Internal medicine, biology.animal, medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e2e211ca0168f3d457d096697601e9ceTest
https://doi.org/10.1111/j.2042-3292.2003.tb00240.xTest -
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المؤلفون: Andrés Nascimento, Rosaline Froissart, Isidro Ferrer, Cecilia Jimenez-Mallebrera, Jaume Colomer, Victoria Cusi, Montse Olivé, Marie-Odile Rolland, J. Corbera
المصدر: Histopathology. 54:765-768
مصطلحات موضوعية: Glycogen Branching Enzyme Deficiency, Pediatrics, medicine.medical_specialty, Histology, business.industry, medicine, Muscle weakness, General Medicine, Congenital hypotonia, medicine.symptom, business, Perinatal period, Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ae2efdcd8ad0fa706995d86383b9ef54Test
https://doi.org/10.1111/j.1365-2559.2009.03281.xTest -
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المؤلفون: Carrie J. Finno, Stephanie J. Valberg, Sharon J. Spier
المصدر: The Veterinary Journal. 179:336-347
مصطلحات موضوعية: Male, Severe combined immunodeficiency, Mutation, General Veterinary, Chromosome Mapping, Disease, Biology, Prognosis, medicine.disease, medicine.disease_cause, Glycogen Branching Enzyme Deficiency, Horse genome, Hereditary equine regional dermal asthenia, Immunology, Prevalence, medicine, Animals, Female, Genetic Predisposition to Disease, Horse Diseases, Animal Science and Zoology, Horses, Hyperkalemic periodic paralysis, Junctional epidermolysis bullosa (veterinary medicine)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be1cdb9790a012dd64697a096edaac51Test
https://doi.org/10.1016/j.tvjl.2008.03.016Test