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1
المؤلفون: Lianshu Han, Feng Xu, Lili Liang, Huiwen Zhang, Wenjuan Qiu, Xuefan Gu, Jun Ye, Huishu E, Zhuwen Gong
المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Movement disorders, glutaric aciduria type 1, Glutaryl-CoA dehydrogenase, Glutaric aciduria type 1, Disease, Glutaric acid, QH426-470, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Genetics, Genotyping, Genetics (clinical), Original Research, Newborn screening, business.industry, glutarylcarnitine, Macrocephaly, medicine.disease, 030104 developmental biology, chemistry, capryloylcarnitine, Molecular Medicine, glutaryl-CoA dehydrogenase, GCDH gene, medicine.symptom, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f13722184668badf027262a7ab93fe8
https://www.frontiersin.org/articles/10.3389/fgene.2021.702374/full -
2
المؤلفون: Gilian Guerreiro, Angela Sitta, Carmen Regla Vargas, Fernando Kok, Jéssica Lamberty Faverzani, Aline Kayser, Larissa Athayde, Moacir Wajner, Carlos Eduardo Diaz Jacques, Vanusa Manfredini, Desirèe Padilha Marchetti, Daniella de Moura Coelho
المصدر: Journal of Cellular Biochemistry. 119:10021-10032
مصطلحات موضوعية: Male, 0301 basic medicine, Antioxidant, DNA damage, medicine.medical_treatment, Glutaryl-CoA dehydrogenase, Glutaric acid, Pharmacology, Protective Agents, medicine.disease_cause, Biochemistry, Antioxidants, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Carnitine, medicine, Humans, Child, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Reactive nitrogen species, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Glutaric aciduria, Infant, Cell Biology, Reactive Nitrogen Species, Oxidative Stress, 030104 developmental biology, chemistry, Child, Preschool, Female, 030217 neurology & neurosurgery, Oxidative stress, DNA Damage, medicine.drug
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3
المؤلفون: Sander M. Houten, Tetyana Dodatko, Brandon Stauffer, Chunli Yu, Hongjie Chen, João Leandro, Robert J. DeVita
المصدر: Journal of Inherited Metabolic Disease. 43:1154-1164
مصطلحات موضوعية: Male, Metabolite, Lysine, Dehydrogenase, Glutaric aciduria type 1, Glutaric acid, Glutarates, Mice, 03 medical and health sciences, chemistry.chemical_compound, Genetics, medicine, Animals, Humans, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), 030304 developmental biology, Mice, Knockout, 0303 health sciences, Glutaryl-CoA Dehydrogenase, ATP synthase, biology, Brain Diseases, Metabolic, 030305 genetics & heredity, Glutaric aciduria, Brain, medicine.disease, Disease Models, Animal, HEK293 Cells, Liver, chemistry, Biochemistry, Saccharopine, biology.protein, Female, CRISPR-Cas Systems, 2-Aminoadipic Acid
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4
المصدر: International Journal of Developmental Neuroscience. 80:42-49
مصطلحات موضوعية: Male, medicine.medical_specialty, Cathepsin D, Inflammation, Glutaric acid, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Developmental Neuroscience, Neurotrophic factors, Internal medicine, medicine, Humans, Child, Amino Acid Metabolism, Inborn Errors, Neural Cell Adhesion Molecules, 030304 developmental biology, Platelet-Derived Growth Factor, Cathepsin, 0303 health sciences, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, business.industry, Brain-Derived Neurotrophic Factor, Neurodegeneration, Infant, Newborn, Infant, medicine.disease, Hypotonia, Endocrinology, chemistry, Dyskinesia, Child, Preschool, Nerve Degeneration, Female, medicine.symptom, business, Biomarkers, 030217 neurology & neurosurgery, Developmental Biology
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5
المؤلفون: Ilya V. Kanivets, Maksim A Yunin, Galina Baydakova, Elena V. Saifullina, Denis V Pyankov, Natalya L Pechatnikova, Ekaterina Zakharova, Sergey Korostelev, Marina V. Kurkina, Svetlana V Mihaylova
المصدر: Metabolic brain disease. 35(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Mutation, Missense, Glutaryl-CoA dehydrogenase, Glutaric aciduria type 1, Glutaric acid, Biology, Biochemistry, Protein Structure, Secondary, Russia, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, Chromosome 19, Genotype, medicine, Missense mutation, Humans, Allele, Amino Acid Metabolism, Inborn Errors, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Infant, medicine.disease, Molecular biology, 030104 developmental biology, chemistry, Child, Preschool, Female, Neurology (clinical), 030217 neurology & neurosurgery, Glutaric Acidemia Type 1
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6
المؤلفون: Carmen Regla Vargas, Bianca Gome dos Reis, Gabriel de Lima Rosa, Alana Pimentel Moura, Vitoria Volfart, Guilherme Baldo, Angela Sitta, Adriana Simon Coitinho, Esteban Alberto Gonzalez, Moacir Wajner, Gilian Guerreiro, Jéssica Lamberty Faverzani
المصدر: Archives of Biochemistry and Biophysics. 709:108970
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Interleukin-1beta, Biophysics, Alpha (ethology), Glutaryl-CoA dehydrogenase, Striatum, Glutaric acid, Cathepsin D, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Transforming Growth Factor beta, Carnitine, Internal medicine, medicine, Animals, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Inflammation, Mice, Knockout, Glutaryl-CoA Dehydrogenase, 030102 biochemistry & molecular biology, Brain Diseases, Metabolic, Chemistry, Lysine, Wild type, Grooming, Corpus Striatum, Neuroprotective Agents, 030104 developmental biology, Endocrinology, Knockout mouse, Open Field Test, Locomotion, Glutaric Acidemia Type 1, medicine.drug
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7
المؤلفون: Nikolas, Boy, Chris, Mühlhausen, Esther M, Maier, Jana, Heringer, Birgit, Assmann, Peter, Burgard, Marjorie, Dixon, Sandra, Fleissner, Cheryl R, Greenberg, Inga, Harting, Georg F, Hoffmann, Daniela, Karall, David M, Koeller, Michael B, Krawinkel, Jürgen G, Okun, Thomas, Opladen, Roland, Posset, Katja, Sahm, Johannes, Zschocke, Stefan, Kölker, Stephan, Vom Dahl
المساهمون: University of Zurich, Boy, Nikolas
المصدر: Journal of Inherited Metabolic Disease. 40:75-101
مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), medicine.medical_specialty, Pediatrics, 610 Medicine & health, Glutaryl-CoA dehydrogenase, Glutaric aciduria type 1, Glutaric acid, Glutarates, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, 1311 Genetics, Internal medicine, Genetics, medicine, Humans, Carnitine, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, business.industry, Catabolism, Lysine, Glutaric aciduria, Glutaconic acid, medicine.disease, 030104 developmental biology, Endocrinology, chemistry, 10036 Medical Clinic, Dietary Supplements, business, 030217 neurology & neurosurgery, Glutaric Acidemia Type 1, medicine.drug
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8
المؤلفون: Gurleen Kaur, Nandita Mehta
المصدر: Anesthesia, Essays and Researches
مصطلحات موضوعية: Surgical stress, business.industry, glutarylcarnitine, Central nervous system, Metabolic disorder, encephalopathic crisis, Glutaryl-CoA dehydrogenase, Case Report, Glutaric aciduria type 1, Hypoglycemia, Glutaric acid, medicine.disease, chemistry.chemical_compound, 3-Hydroxyglutaric acid, medicine.anatomical_structure, glutaric acid, glutaryl CoA dehydrogenase, chemistry, Anesthesia, Anesthetic, Materials Chemistry, medicine, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd2110563ee951af38adb1a5cb65e1c
http://europepmc.org/articles/PMC6020594 -
9
المؤلفون: Mahesh Kamate, Muntaj Shaik, Vedamurthy A B, Kruthika-Vinod T P
المصدر: Indian journal of pediatrics. 86(11)
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, India, Glutaryl-CoA dehydrogenase, Urine, Glutaric acid, Gene mutation, Gastroenterology, Glutarates, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Neonatal Screening, Tandem Mass Spectrometry, 030225 pediatrics, Internal medicine, medicine, Humans, Amino Acid Metabolism, Inborn Errors, Newborn screening, Glutaryl-CoA Dehydrogenase, business.industry, Brain Diseases, Metabolic, Glutaric aciduria, Infant, Newborn, Infant, Dried blood spot, Phenotype, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Female, business, 030217 neurology & neurosurgery, Urine organic acids
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e008db2edcf1d1122e835447fcbb4cc4
https://pubmed.ncbi.nlm.nih.gov/31302874 -
10
المؤلفون: Gilian Guerreiro, Marion Deon, Ana Carolina Groehs, Jéssica Lamberty Faverzani, Angela Sitta, Carmen Regla Vargas, Rafael Teixeira Ribeiro, Moacir Wajner, Alexandre Umpierrez Amaral
المصدر: Biochimica et biophysica acta. Molecular basis of disease. 1865(9)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Antioxidant, Normal diet, medicine.medical_treatment, Glutaryl-CoA dehydrogenase, Glutaric acid, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Internal medicine, Carnitine, medicine, Animals, Molecular Biology, Amino Acid Metabolism, Inborn Errors, chemistry.chemical_classification, Mice, Knockout, Reactive oxygen species, Glutathione Peroxidase, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Superoxide Dismutase, Lysine, Corpus Striatum, Diet, Disease Models, Animal, Oxidative Stress, 030104 developmental biology, Endocrinology, chemistry, Knockout mouse, Molecular Medicine, Reactive Oxygen Species, 030217 neurology & neurosurgery, Oxidative stress, medicine.drug
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