المؤلفون: Jirair K. Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas, Edward Yang, Ha Kyung Shin, George J. Grahame, Suzanne D. DeBrosse, Charles L. Hoppel, Douglas S. Kerr, Gerard T. Berry

المصدر: JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)

مصطلحات موضوعية: branched‐chain 2‐ketoacid dehydrogenase, developmental delay, lactic acidosis, PDP1, pyruvate dehydrogenase complex deficiency, pyruvate dehydrogenase phosphatase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/b59d2924e8ea4aa7970c206f3ceba207

المؤلفون: Kristin K. Deeb, Jirair K. Bedoyan, Raymond Wang, Leighann Sremba, Molly C. Schroeder, George J. Grahame, Monica Boyer, Shawn E. McCandless, Douglas S. Kerr, Shulin Zhang

المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 362-367 (2014)

مصطلحات موضوعية: Mosaicism, Mutation analysis, PDHA1 gene, PDHc Deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426914000524; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/8d79b78b19154240beb1b13c115cb917

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f937cc742f8ecb3aa4ecac70175c05
https://doi.org/10.1002/jmd2.12054

المؤلفون: Dennis Bartholomew, Kirkland Wilson, Sharon Linard, Nicole Ducich, Sumit Parikh, April Lehman, Ha Kyung Shin, Bruce M. Cohen, Suzanne D. DeBrosse, Edwin C Ferren, Jirair K. Bedoyan, Douglas S. Kerr, Kandamurugu Manickam, Rosemary Hage, Lori-Anne Schillaci, Mari Mori

المصدر: Molecular Genetics and Metabolism. 132:S6-S7

مصطلحات موضوعية: chemistry.chemical_classification, Endocrinology, Biochemistry, chemistry, Endocrinology, Diabetes and Metabolism, Lactic acidosis, Genetics, medicine, medicine.disease, Pyruvate dehydrogenase complex, Molecular Biology, Amino acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::93358160892e8a2927f43460f8179439
https://doi.org/10.1016/s1096-7192(21)00097-4

المؤلفون: Sumit Parikh, Kandamurugu Manickam, Dennis Bartholomew, Nicole Ducich, Edwin Ferren, Kirkland Wilson, Rosemary Hage, Douglas S. Kerr, Suzanne D. DeBrosse, Ha Kyung Shin, April Lehman, Jirair K. Bedoyan, Mari Mori, Bruce M. Cohen, Sharon Linard, Lori-Anne Schillaci

المصدر: JIMD Reports
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)

مصطلحات موضوعية: Research Report, medicine.medical_specialty, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Mitochondrial disease, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Diseases of the endocrine glands. Clinical endocrinology, HSD17B10, Internal medicine, mitochondrial disorder, Internal Medicine, medicine, proline, Alanine, Newborn screening, lcsh:RC648-665, business.industry, newborn screening, Research Reports, pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase complex, medicine.disease, Dried blood spot, lcsh:Genetics, lactic acidosis, Endocrinology, ketogenic diet, Lactic acidosis, Leucine, alanine, ketogenic amino acids, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ec8534541aa478bc3efe9887e90637
https://pubmed.ncbi.nlm.nih.gov/33204598

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26bf76dfee3fb9fe7902f0f12a057c2
https://doi.org/10.1016/j.ymgme.2014.04.001

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/

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::515a8f759cdc2d4116ec44c341525eab

المؤلفون: Douglas S. Kerr

المصدر: Neurotherapeutics. 10:307-319

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Mitochondrial Diseases, Ubiquinone, Mitochondrial disease, Review, Arginine, Creatine, Antioxidants, Phosphocreatine, chemistry.chemical_compound, Internal medicine, Humans, Medicine, Idebenone, Pharmacology (medical), Pharmacology, Coenzyme Q10, Clinical Trials as Topic, business.industry, medicine.disease, Crossover study, Exercise Therapy, Clinical trial, chemistry, Lactic acidosis, Physical therapy, Neurology (clinical), business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb9ebeaba6ffbcb6e36045b19930f878
https://doi.org/10.1007/s13311-013-0176-7

المؤلفون: Rashid Alshahoumi, Emanuele Barca, Christopher Beatty, Sirisak Chanprasert, Patrick F. Chinnery, John Christodoulou, Bruce H. Cohen, James E. Davison, Suzanne D. DeBrosse, Adela Della Marina, Beatriz García Díaz, Salvatore DiMauro, Simon Edvardson, Marni J. Falk, Xiaowu Gai, Amy Goldstein, Leon Grant, R.H. Haas, Michio Hirano, Rita Horvath, Pirjo Isohanni, Douglas S. Kerr, Mary Kay Koenig, Tuula Lönnqvist, Mariana Loos, S.E. Marin, Shana E. McCormack, Elizabeth M. McCormick, Robert K. Naviaux, Anders Paetau, Sumit Parikh, Emily Place, Catarina M. Quinzii, Shamima Rahman, Lisa Riley, Ann Saada (Reisch), Russell P. Saneto, Fernando Scaglia, Ulrike Schara, Kurenai Tanji, Mark Tarnopolsky, Patrick Yu-Wai-Man

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::02016d00896b01a9a443260795552a3b
https://doi.org/10.1016/b978-0-12-800877-5.01002-0