Výsledky vyhledávání - "Douglas A. Kerr"

Akademický článek

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

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

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Akademický článek

Pilot study of a serious board game intervention to facilitate narrative identity reconstruction in mental health recovery

Autor: Douglas JR Kerr, Frank P Deane, Trevor P Crowe

Publikováno v: Health Psychology Open, Vol 7 (2020)

This quasi-experimental study explores the effects of a narrative coaching board game intervention aimed at enhancing participants’ sense of self-mastery as part of facilitating narrative identity reconstruction. Three mixed analyses of variance co

Externí odkaz: https://doaj.org/article/3d762ef893b6495584cd016341618ce0

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Akademický článek

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

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

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Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Autor: Douglas A. Kerr, Nancy L. Kuntz, John W. Day, Jacinda B. Sampson, Anne M. Connolly, R. Rodney Howell, Jacqueline J. Glascock, Katherine W. Klinger, Jill Jarecki, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Perry B. Shieh, Thomas W. Prior

Publikováno v: Journal of Neuromuscular Diseases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb7e511b53207dfa4b1309d0610d5f7
http://europepmc.org/articles/PMC7175931

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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Publikováno v: Neuromuscular Disorders

Highlights • NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA. • All infants were ≥25 months old, and alive without permanent ventilation. • All infants achieved independent sitting and 88% (22/25) were walki

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009a698a6201cae9a42c7310edf09bf6
http://europepmc.org/articles/PMC7127286

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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

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)

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

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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

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)

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

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Akademický článek

Noninvasive Monitoring of Immunosuppressive Drug Efficacy to Prevent Rejection of Intracerebral Glial Precursor Allografts

Autor: Michael Gorelik, Miroslaw Janowski, Chulani Galpoththawela, Robert Rifkin, Michael Levy, Barbara Lukomska, Douglas A. Kerr, Jeff W. M. Bulte, Piotr Walczak, Russell H. Morgan

Publikováno v: Cell Transplantation, Vol 21 (2012)

The development of cell-based therapies opens up new avenues for treating a myriad of diseases of the central nervous system (CNS). While significant effort is being directed toward development of patient-specific, autologous transplantable cells, at

Externí odkaz: https://doaj.org/article/d70411c0ec2f4cb9bec06b451581015d

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