Zobrazeno 1 - 10
of 126
pro vyhledávání: '"Douglas S. Kerr"'
Autor:
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
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 26-35 (2019)
Abstract 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
Externí odkaz:
https://doaj.org/article/b59d2924e8ea4aa7970c206f3ceba207
Autor:
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
Publikováno v:
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://doaj.org/article/8d79b78b19154240beb1b13c115cb917
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:
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
Publikováno v:
JIMD Reports
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
JIMD Reports, Vol 56, Iss 1, Pp 70-81 (2020)
Pyruvate dehydrogenase complex deficiencies (PDCDs) and other mitochondrial disorders (MtDs) can (a) result in congenital lactic acidosis with elevations of blood alanine (Ala) and proline (Pro), (b) lead to decreased ATP production, and (c) result i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ec8534541aa478bc3efe9887e90637
https://pubmed.ncbi.nlm.nih.gov/33204598
https://pubmed.ncbi.nlm.nih.gov/33204598
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism. 132:S6-S7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93358160892e8a2927f43460f8179439
https://doi.org/10.1016/s1096-7192(21)00097-4
https://doi.org/10.1016/s1096-7192(21)00097-4
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:
Douglas S. Kerr
Publikováno v:
Neurotherapeutics. 10:307-319
Over the last 15 years, some 16 open and controlled clinical trials for potential treatments of mitochondrial diseases have been reported or are in progress, and are summarized and reviewed herein. These include trials of administering dichloroacetat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb9ebeaba6ffbcb6e36045b19930f878
https://doi.org/10.1007/s13311-013-0176-7
https://doi.org/10.1007/s13311-013-0176-7
Autor:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02016d00896b01a9a443260795552a3b
https://doi.org/10.1016/b978-0-12-800877-5.01002-0
https://doi.org/10.1016/b978-0-12-800877-5.01002-0