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1
المؤلفون: Kuntal Sen, Jirair K. Bedoyan, George Grahame, Andrea L. Gropman
المصدر: Eur J Paediatr Neurol
مصطلحات موضوعية: Adult, Male, Proband, Heterozygote, Pediatrics, medicine.medical_specialty, Flaccid paralysis, Mothers, Hemiplegia, Guillain-Barre Syndrome, Article, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Pyruvate Dehydrogenase (Lipoamide), Pyruvate Dehydrogenase Complex Deficiency Disease, Hemizygote, Paraplegia, Guillain-Barre syndrome, business.industry, Alternating hemiplegia of childhood, General Medicine, medicine.disease, Pedigree, Phenotype, Child, Preschool, Lactic acidosis, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Developmental regression, 030217 neurology & neurosurgery, Alternating hemiplegia
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المؤلفون: Shulin Zhang, George Grahame, Stacey Tarrant, Charles L. Hoppel, Ann M. Bergin, Douglas S. Kerr, Jirair K. Bedoyan, Suzanne D. DeBrosse, Ha Kyung Shin, Leah Hecht, Didem Demirbas, Edward Yang, Gerard T. Berry
المصدر: JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)مصطلحات موضوعية: lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Case Report, Dehydrogenase, Case Reports, macromolecular substances, Pyruvate dehydrogenase phosphatase, Congenital lactic acidosis, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Internal Medicine, medicine, branched‐chain 2‐ketoacid dehydrogenase, 030304 developmental biology, Alanine, 0303 health sciences, lcsh:RC648-665, Chemistry, pyruvate dehydrogenase phosphatase deficiency, PDP1, hemic and immune systems, pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase complex, medicine.disease, Molecular biology, 3. Good health, developmental delay, lcsh:Genetics, lactic acidosis, Lactic acidosis, 030217 neurology & neurosurgery, Ketogenic diet
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3
المؤلفون: David J. Harris, Didem Demirbas, George Grahame, Suzanne D. DeBrosse, Gerard T. Berry, Charles L. Hoppel, Simone Edelheit, Jirair K. Bedoyan, Alexander Miron, Irina Anselm, Douglas S S Kerr, Xiaoping Huang, Lee-Jun C. Wong
المصدر: Molecular Genetics and Metabolism. 120:213-222
مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, SUCLA2, Endocrinology, Diabetes and Metabolism, Oxidative phosphorylation, Biology, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Biochemistry, Article, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Endocrinology, Internal medicine, Succinate-CoA Ligases, Genetics, medicine, Humans, Child, Muscle, Skeletal, Myopathy, Molecular Biology, Sequence Deletion, Siblings, Succinyl coenzyme A synthetase, Pyruvate dehydrogenase complex, medicine.disease, Citric acid cycle, 030104 developmental biology, Lactic acidosis, medicine.symptom, 030217 neurology & neurosurgery
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4
المؤلفون: Stephen F. Traynelis, Karin Fuentes Fajardo, Lynne A. Wolfe, Conisha Holloman, Barbara K. Burton, Richard W. Hanson, James P. Snyder, Cornelius F. Boerkoel, Todd Holyoak, Ann C.M. Smith, David R. Adams, Hongjie Yuan, Cynthia J. Tifft, Thierry Vilboux, Gretchen Golas, Yan Huang, Douglas S. Kerr, Murat Sincan, Katrina H. Arajs, Parvin Hakimi, George Grahame, Hugo Vega, William A. Gahl, Thomas C. Markello, Gordon Wells
المصدر: Molecular Genetics and Metabolism. 113:161-170
مصطلحات موضوعية: Retinoic acid induced 1, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Mutation, Missense, Single-nucleotide polymorphism, Protein structure function, Polymorphism, Single Nucleotide, Receptors, N-Methyl-D-Aspartate, Biochemistry, Article, Endocrinology, Genetics, medicine, Humans, Amino Acid Sequence, Child, Molecular Biology, Genetic Association Studies, Exome sequencing, Base Sequence, biology, Intracellular Signaling Peptides and Proteins, Smith–Magenis syndrome, medicine.disease, 3. Good health, HEK293 Cells, Child, Preschool, Mutation (genetic algorithm), Trans-Activators, biology.protein, Female, Phosphoenolpyruvate Carboxykinase (GTP), GRIN2B, Smith-Magenis Syndrome, Phosphoenolpyruvate Carboxykinase (ATP), Transcription Factors
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المصدر: Molecular genetics and metabolism. 122(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Endocrinology, Diabetes and Metabolism, Lymphocyte, Pyruvate Dehydrogenase Complex, macromolecular substances, 030105 genetics & heredity, Biology, medicine.disease_cause, Biochemistry, Sensitivity and Specificity, Article, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, medicine, Humans, Pyruvate Dehydrogenase (Lipoamide), Lymphocytes, Fibroblast, Molecular Biology, Pyruvate Dehydrogenase Complex Deficiency Disease, Cells, Cultured, Acidosis, Enzyme Assays, Mutation, Skeletal muscle, hemic and immune systems, Fibroblasts, Pyruvate dehydrogenase complex, medicine.disease, Enzyme assay, medicine.anatomical_structure, Lactic acidosis, biology.protein, Acidosis, Lactic, Female, medicine.symptom, Algorithm, 030217 neurology & neurosurgery, Algorithms
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المؤلفون: Jirair K. Bedoyan, Suzanne D. DeBrosse, Samuel P. Yang, Alexander Miron, Sacha Ferdinandusse, George Grahame, Charles L. Hoppel, Douglas S. Kerr, Rhona Jack, Ronald J.A. Wanders
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Biology, Biochemistry, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, ECHS1, Genetics, medicine, Humans, Exome, Molecular Biology, Enoyl-CoA Hydratase, Pyruvate Dehydrogenase Complex Deficiency Disease, Catabolism, Infant, Newborn, Sequence Analysis, DNA, Enoyl-CoA hydratase, Pyruvate dehydrogenase complex, medicine.disease, 030104 developmental biology, Lactic acidosis, 030217 neurology & neurosurgery, Urine organic acids, Ketogenic diet
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1874f9bef24cdebcfd56d1d58f6b7387
https://europepmc.org/articles/PMC5382105/ -
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المؤلفون: Raymond Y. Wang, George Grahame, Monica Boyer, Jirair K. Bedoyan, Kristin K. Deeb, Douglas S. Kerr, Molly C. Schroeder, Leighann Sremba, Shawn E. McCandless, Shulin Zhang
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 362-367 (2014)مصطلحات موضوعية: Case Report, macromolecular substances, Biology, medicine.disease_cause, Endocrinology, Genetics, medicine, Missense mutation, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, Mutation, Mosaicism, PDHA1 gene, PDHc Deficiency, Pyruvate dehydrogenase complex, medicine.disease, Phenotype, Pyruvate dehydrogenase deficiency, Mutation analysis, lcsh:Biology (General), Failure to thrive, Mutation testing, medicine.symptom, lcsh:Medicine (General)
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المؤلفون: Christine L. Schmotzer, Kazuki Okajima, Ghunwa Nakouzi, Suzanne D. DeBrosse, Shulin Na Zhang, Mary Beth Frohnapfel, Marilyn Lusk-Kopp, Douglas S. Kerr, George Grahame
المصدر: Molecular genetics and metabolism. 107(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Ataxia, Genotype, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Population, Dihydrolipoyllysine-Residue Acetyltransferase, Biochemistry, Autoantigens, Severity of Illness Index, Mitochondrial Proteins, Genetic Heterogeneity, Endocrinology, Cognition, Sex Factors, Internal medicine, Intellectual disability, Severity of illness, Genetics, medicine, Humans, Pyruvate Dehydrogenase (Lipoamide), education, Child, Molecular Biology, Survival rate, Pyruvate Dehydrogenase Complex Deficiency Disease, Retrospective Studies, education.field_of_study, business.industry, Infant, medicine.disease, Hypotonia, Pedigree, Survival Rate, Peripheral neuropathy, Phenotype, Child, Preschool, Mutation, Female, medicine.symptom, Leigh Disease, business, Ketogenic diet
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المؤلفون: Douglas, Kerr, George, Grahame, Ghunwa, Nakouzi
المصدر: Methods in molecular biology (Clifton, N.J.). 837
مصطلحات موضوعية: Adult, Child, Preschool, Animals, Humans, Infant, Pyruvate Dehydrogenase Complex, Citrate (si)-Synthase, Dihydrolipoamide Dehydrogenase, Enzyme Assays, Pyruvate Carboxylase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1493ca5b6138a81602e6012b323a3269
https://pubmed.ncbi.nlm.nih.gov/22215543 -
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المؤلفون: Ghunwa Nakouzi, George Grahame, Douglas S. Kerr
المصدر: Methods in Molecular Biology ISBN: 9781617795039
مصطلحات موضوعية: Pyruvate decarboxylation, Pyruvate dehydrogenase kinase, Biochemistry, Chemistry, Pyruvate carboxylase activity, Dihydrolipoyl transacetylase, Pyruvate dehydrogenase phosphatase, Pyruvate dehydrogenase complex, Branched-chain alpha-keto acid dehydrogenase complex, Pyruvate carboxylase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9e69290975ba13e54f372a5532c53c0c
https://doi.org/10.1007/978-1-61779-504-6_7