Zobrazeno 1 - 10
of 12
pro vyhledávání: '"George Grahame"'
Publikováno v:
Eur J Paediatr Neurol
We report a 5-year-old male with a PDHA1 variant who presented with alternating hemiplegia of childhood and later developed developmental regression, basal ganglia injury and episodic lactic acidosis. Enzyme assay in lymphocytes confirmed a diagnosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::349a98933b15f8b8b15a7c2dffe7db95
https://doi.org/10.1016/j.ejpn.2021.01.006
https://doi.org/10.1016/j.ejpn.2021.01.006
Autor:
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
Publikováno v:
JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
Congenital lactic acidosis due to pyruvate dehydrogenase phosphatase (PDP) deficiency is very rare. PDP regulates pyruvate dehydrogenase complex (PDC) and defective PDP leads to PDC deficiency. We report a case with functional PDC deficiency with low
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81f937cc742f8ecb3aa4ecac70175c05
https://doi.org/10.1002/jmd2.12054
https://doi.org/10.1002/jmd2.12054
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism. 120:213-222
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480fee5b5d6ae0f93f7dde99696494e7
https://doi.org/10.1016/j.ymgme.2016.11.005
https://doi.org/10.1016/j.ymgme.2016.11.005
Publikováno v:
Molecular genetics and metabolism. 122(3)
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important impli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::427707dff7715d3a803089d90afe0f6e
https://pubmed.ncbi.nlm.nih.gov/28918066
https://pubmed.ncbi.nlm.nih.gov/28918066
Autor:
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
Mutations in ECHS1 result in short-chain enoyl-CoA hydratase (SCEH) deficiency which mainly affects the catabolism of various amino acids, particularly valine. We describe a case compound heterozygous for ECHS1 mutations c.836T>C (novel) and c.8C>A i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1874f9bef24cdebcfd56d1d58f6b7387
https://europepmc.org/articles/PMC5382105/
https://europepmc.org/articles/PMC5382105/
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism. 113:161-170
The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously una
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26bf76dfee3fb9fe7902f0f12a057c2
https://doi.org/10.1016/j.ymgme.2014.04.001
https://doi.org/10.1016/j.ymgme.2014.04.001
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 362-367 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 362-367 (2014)
Pyruvate dehydrogenase complex (PDC) deficiencies are mostly due to mutations in the X-linked PDHA1 gene. Males with hemizygous PDHA1 mutations are clinically more severely affected, while those with mosaic PDHA1 mutations may manifest milder phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::515a8f759cdc2d4116ec44c341525eab
Autor:
Christine L. Schmotzer, Kazuki Okajima, Ghunwa Nakouzi, Suzanne D. DeBrosse, Shulin Na Zhang, Mary Beth Frohnapfel, Marilyn Lusk-Kopp, Douglas S. Kerr, George Grahame
Publikováno v:
Molecular genetics and metabolism. 107(3)
Pyruvate dehydrogenase complex (PDC) deficiency is a relatively common mitochondrial disorder that primarily presents with neurological manifestations and lactic acidemia. We analyzed the clinical outcomes and neurological features of 59 consented sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21cb6ce1fc3ec60af5877b61ecf25a0
https://pubmed.ncbi.nlm.nih.gov/23021068
https://pubmed.ncbi.nlm.nih.gov/23021068
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 837
Pyruvate dehydrogenase complex (PDC) and pyruvate carboxylase (PC) are mitochondrial enzymes that provide the initial steps of the two main alternatives for pyruvate metabolism: oxidative decarboxylation vs. anaplerotic carboxylation, gluconeogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1493ca5b6138a81602e6012b323a3269
https://pubmed.ncbi.nlm.nih.gov/22215543
https://pubmed.ncbi.nlm.nih.gov/22215543
Publikováno v:
Methods in Molecular Biology ISBN: 9781617795039
Pyruvate dehydrogenase complex (PDC) and pyruvate carboxylase (PC) are mitochondrial enzymes that provide the initial steps of the two main alternatives for pyruvate metabolism: oxidative decarboxylation vs. anaplerotic carboxylation, gluconeogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e69290975ba13e54f372a5532c53c0c
https://doi.org/10.1007/978-1-61779-504-6_7
https://doi.org/10.1007/978-1-61779-504-6_7