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1دورية أكاديمية
المؤلفون: Canda E., Yazici H., Altınok Y.A., Ucar S.K., Coker M.
مصطلحات موضوعية: uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical Article, consanguineous marriage, differential diagnosis, enzyme activity, aspartate aminotransferase, genetic analysis, genetic association, human, alanine aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic screening, glucose urine level
العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79419Test; https://doi.org/10.1002/jmd2.12263Test; 63; 25; 28
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2دورية أكاديمية
المؤلفون: Yazici H., Canda E., Altınok Y.A., Ucar S.K., Coker M.
مصطلحات موضوعية: alanine aminotransferase, aspartate aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical article, consanguineous marriage, differential diagnosis, enzyme activity, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic analysis, genetic association, genetic screening, glucose urine level, head circumference
العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/jmd2.12263Test; https://hdl.handle.net/11454/79419Test; 63; 25; 28; 2-s2.0-85123420633
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المؤلفون: Yasemin Atik Altınok, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker
المصدر: JIMD Reports
JIMD Reports, Vol 63, Iss 1, Pp 25-28 (2022)مصطلحات موضوعية: Sanger sequencing, genetic association, Endocrinology, Diabetes and Metabolism, consanguineous marriage, Case Report, genetic analysis, Case Reports, QH426-470, physical examination, blood level, preschool child, whole exome sequencing, galactokinase, Leloir pathway, aspartate aminotransferase, differential diagnosis, gene mutation, bilirubin blood level, child, clinical article, education.field_of_study, Chemistry, genetic screening, unclassified drug, enzyme activity, female, Biochemistry, cataract, head circumference, eye examination, galactose 1 phosphate uridylyltransferase, enzyme deficiency, Galactose mutarotase, galactose mutarotase, hypermetropia, alanine aminotransferase, galactose, gene frequency, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Article, male, Genetics, Internal Medicine, GALM, liver function test, human, education, glucose urine level, uridine diphosphate glucose 4 epimerase, birth weight, RC648-665, enzyme, blood cell count, homozygosity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec443352d6f7d362fa4310df5fd3fcecTest
http://europepmc.org/articles/PMC8743342Test -
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المؤلفون: Alessia Cafaro, Gino Tripodi, Marco Gattorno, Sebastiano Barco, Francesca Schena, Giuliana Cangemi, Stefano Volpi, Federica Pigliasco, Federica Penco, Roberta Caorsi
المصدر: Molecules
Volume 26
Issue 18
Molecules, Vol 26, Iss 5707, p 5707 (2021)مصطلحات موضوعية: Adenosine Deaminase 2 Deficiency, Adult, Male, Adolescent, Adenosine Deaminase, Autoinflammatory disease, DADA2, Enzyme deficiency, LC-MS/MS, Agammaglobulinemia, Biomarkers, Child, Dried Blood Spot Testing, Female, Homozygote, Humans, Middle Aged, Mutation, Phenotype, Severe Combined Immunodeficiency, Tandem Mass Spectrometry, Tumor Necrosis Factor Inhibitors, Pharmaceutical Science, DNA sequencing, Article, Analytical Chemistry, QD241-441, Adenosine deaminase, autoinflammatory disease, Drug Discovery, Lc ms ms, Medicine, Physical and Theoretical Chemistry, Gene, chemistry.chemical_classification, biology, business.industry, Organic Chemistry, Molecular biology, Enzyme assay, Enzyme, chemistry, Chemistry (miscellaneous), biology.protein, Molecular Medicine, enzyme deficiency, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9f09c2ac7488e47021759f1bf21903Test
https://pubmed.ncbi.nlm.nih.gov/34577178Test -
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المؤلفون: Antonio Federico, L. Manneschi, Maria Teresa Dotti
المصدر: Journal of the neurological sciences. 129(2)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Biopsy, Mitochondrion, Biology, Cerebrotendinous Xanthomatosis, Electron Transport, Tendons, chemistry.chemical_compound, Internal medicine, Pyruvic Acid, medicine, Xanthomatosis, Humans, Lactic Acid, Pyruvates, chemistry.chemical_classification, Brain Diseases, medicine.diagnostic_test, Muscles, Electron transport chain, Lactic acid, Mitochondria, Muscle, Endocrinology, Enzyme, Neurology, Biochemistry, chemistry, Lactates, Female, Neurology (clinical), Pyruvic acid, Mitochondrial Enzyme Deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf25054e00278358ad7ed67636e5873Test
https://pubmed.ncbi.nlm.nih.gov/7608723Test -
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المؤلفون: Masato Maekawa, Takashi Kanno, Yukio Matsuura, Masato Kltajima, Susumu Takayasu, Kayoko Sudo, Steven S.-L. Li
المصدر: Human molecular genetics. 3(5)
مصطلحات موضوعية: Enzyme deficiency, Adolescent, Lactate dehydrogenase A, Molecular Sequence Data, L-Lactate dehydrogenase, Biology, Polymerase Chain Reaction, Skin Diseases, Genetics, Humans, Amino Acid Sequence, education, Molecular Biology, Gene, Genetics (clinical), Sequence Deletion, chemistry.chemical_classification, education.field_of_study, Polymorphism, Genetic, Base Sequence, L-Lactate Dehydrogenase, Myoglobinuria, General Medicine, Exons, Protein Structure, Tertiary, Enzyme, chemistry, Biochemistry, Genes, Deletion mutation, Mutation (genetic algorithm), Nucleic Acid Conformation, Female, Allosteric Site
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa911587ee5c25b81c11f93d871286d8Test
https://pubmed.ncbi.nlm.nih.gov/8081370Test -
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المؤلفون: Ziad Rifai, Sara Shanske, George Karpati, Claudio Bruno, David McKee, Salvatore DiMauro, Richard J. Barohn, Serenella Servidei, Stirling Carpenter, Michio Hirano
المصدر: Annals of neurology. 33(1)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Polymers, Biopsy, Carbohydrate metabolism, Degenerative disease, Sural Nerve, 1,4-alpha-Glucan Branching Enzyme, medicine, Humans, Glycogen storage disease type IV, Pathological, Aged, chemistry.chemical_classification, Aged, 80 and over, medicine.diagnostic_test, business.industry, Muscles, Adult polyglucosan body disease, Middle Aged, medicine.disease, humanities, Axons, Glycogen Branching Enzyme Deficiency, Enzyme, Glucose, Neurology, chemistry, Female, Neurology (clinical), Nervous System Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4052665ec00fdb3b750cfe73e5e9e8dTest
https://pubmed.ncbi.nlm.nih.gov/8494336Test -
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المؤلفون: Grace K. Penfold, Eftihia Cayanis, Lorna G. Mac Dougall, Ida Freiman
المصدر: British Journal of Haematology. 37:363-391
مصطلحات موضوعية: Anemia, Hemolytic, medicine.medical_specialty, Erythrocytes, Enzyme deficiency, Biology, Asymptomatic, South Africa, Family studies, Glucosephosphate Isomerase, Internal medicine, medicine, Humans, Thermolabile, Child, chemistry.chemical_classification, Genetics, Glucose-6-Phosphate Isomerase, Wild type, Heterozygote advantage, Anemia, Hemolytic, Congenital Nonspherocytic, Hematology, Pedigree, Enzyme, Endocrinology, chemistry, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5e14de763848bbca7697ebe7257590Test
https://doi.org/10.1111/j.1365-2141.1977.tb01007.xTest -
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المؤلفون: C. W. Daeschner, Robert J Mamlok, Randall M. Goldblum, Gordon C. Mills
المصدر: Enzyme. 34:15-21
مصطلحات موضوعية: Adult, Male, Hemolytic anemia, medicine.medical_specialty, Erythrocytes, Enzyme deficiency, Neutrophils, Anemia, Dehydrogenase, Glucosephosphate Dehydrogenase, Anemia, Hemolytic, Congenital, Biochemistry, Substrate Specificity, chemistry.chemical_compound, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Glucose-6-phosphate dehydrogenase, chemistry.chemical_classification, Anemia, Hemolytic, Congenital Nonspherocytic, Fibroblasts, Hydrogen-Ion Concentration, Phosphate, medicine.disease, Isoenzymes, Kinetics, Red blood cell, Glucosephosphate Dehydrogenase Deficiency, Endocrinology, Enzyme, medicine.anatomical_structure, chemistry, Child, Preschool, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41ef4e6fd54a882ab3cb9a49cde0d8c6Test
https://doi.org/10.1159/000469354Test -
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المؤلفون: Axel Kahn, Pierre Boivin, M. L. North, J. Messer
المصدر: Human Genetics. 27:247-250
مصطلحات موضوعية: Male, Enzyme deficiency, Turkey, Electrophoresis, Starch Gel, Glucosephosphate Dehydrogenase, Biology, In vivo, Genetics, Humans, Genetics (clinical), chemistry.chemical_classification, Blood Cells, Genetic Variation, Infant, Blood Protein Electrophoresis, Molecular medicine, Molecular biology, In vitro, Human genetics, Kinetics, Glucosephosphate Dehydrogenase Deficiency, Enzyme, chemistry, Biochemistry, Female, Specific activity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::853e0c35bfff11253816354e5d2abc01Test
https://doi.org/10.1007/bf00278353Test