Pyruvate dehydrogenase deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Pyruvate dehydrogenase deficiency" in English language version.

refsWebsite

Global rank English rank

19nih.gov

4^th place

10doi.org

2^nd place

8worldcat.org

5^th place

2omim.org

4,380^th place

4,305^th place

2medscape.com

719^th place

636^th place

1elsevier.com

610^th place

704^th place

1sciencedirect.com

149^th place

178^th place

1orpha.net

3,537^th place

7,177^th place

1myketocal.com

low place

1clinicaltrials.gov

5,225^th place

4,062^nd place

1chop.edu

low place

1hopeforpdcd.org

low place

chop.edu

Philadelphia, The Children's Hospital of (2019-12-20). "Gene Therapy for Spinal Muscular Atrophy (SMA)". www.chop.edu. Retrieved 2022-11-13.

clinicaltrials.gov

"Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. May 2020. Retrieved 2020-05-06.

doi.org

Brown, G K; Otero, L J; LeGris, M; Brown, R M (November 1994). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.
Patel, Mulchand S.; Nemeria, Natalia S.; Furey, William; Jordan, Frank (2014-06-13). "The Pyruvate Dehydrogenase Complexes: Structure-based Function and Regulation". Journal of Biological Chemistry. 289 (24): 16615–16623. doi:10.1074/jbc.R114.563148. ISSN 0021-9258. PMC 4059105. PMID 24798336.
G K Brown; L J Otero; M LeGris; R M Brown (November 1994). "Pyruvate dehydrogenase deficiency". J Med Genet. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. PMC 1016663. PMID 7853374.
Patel, Kavi P.; O'Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W. (January 2012). "The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 371 Patients". Molecular Genetics and Metabolism. 105 (1): 34–43. doi:10.1016/j.ymgme.2011.09.032. ISSN 1096-7192. PMC 3754811. PMID 22079328.
Shin, Ha Kyung; Grahame, George; McCandless, Shawn E.; Kerr, Douglas S.; Bedoyan, Jirair K. (2017-11-01). "Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency". Molecular Genetics and Metabolism. 122 (3): 61–66. doi:10.1016/j.ymgme.2017.09.001. ISSN 1096-7192. PMC 5722699. PMID 28918066.
Natarajan, Niranjana; Tully, Hannah M.; Chapman, Teresa (2016-08-01). "Prenatal presentation of pyruvate dehydrogenase complex deficiency". Pediatric Radiology. 46 (9): 1354–1357. doi:10.1007/s00247-016-3585-z. ISSN 1432-1998. PMC 6383724. PMID 27026023.
Imbard, A.; Boutron, A.; Vequaud, C.; Zater, M.; de Lonlay, P.; de Baulny, H. Ogier; Barnerias, C.; Miné, M.; Marsac, C.; Saudubray, J.-M.; Brivet, M. (December 2011). "Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein". Molecular Genetics and Metabolism. 104 (4): 507–516. doi:10.1016/j.ymgme.2011.08.008. ISSN 1096-7206. PMID 21914562.
Kerr, D. S.; Wexler, I. D.; Tripatara, A.; Patel, M. S. (1996), Patel, Mulchand S.; Roche, Thomas E.; Harris, Robert A. (eds.), "Human defects of the pyruvate dehydrogenase complex", Alpha-Keto Acid Dehydrogenase Complexes, MCBU Molecular and Cell Biology Updates, Birkhäuser, pp. 249–269, doi:10.1007/978-3-0348-8981-0_18, ISBN 978-3-0348-8981-0
Sofou, Kalliopi; Dahlin, Maria; Hallböök, Tove; Lindefeldt, Marie; Viggedal, Gerd; Darin, Niklas (2017). "Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes". Journal of Inherited Metabolic Disease. 40 (2): 237–245. doi:10.1007/s10545-016-0011-5. ISSN 1573-2665. PMC 5306430. PMID 28101805.
Stacpoole, Peter W.; Owen, Renius; Flotte, Terence R. (June 2003). "The pyruvate dehydrogenase complex as a target for gene therapy". Current Gene Therapy. 3 (3): 239–245. doi:10.2174/1566523034578320. ISSN 1566-5232. PMID 12762482.

elsevier.com

journals.elsevier.com

Mitochondrion.

hopeforpdcd.org

"Gene Therapy for PDHA1". Hope for PDCD Foundation. Retrieved 2022-11-13.

medscape.com

emedicine.medscape.com

"Pyruvate Dehydrogenase Complex Deficiency Workup: Laboratory Studies, Imaging Studies, Histologic Findings". emedicine.medscape.com. Retrieved 8 November 2016.
"Metabolic Acidosis Treatment & Management: Approach Considerations, Type 1 Renal Tubular Acidosis, Type 2 Renal Tubular Acidosis". 2019-11-11. {{cite journal}}: Cite journal requires |journal= (help)

myketocal.com

"KetoCal family of ketogenic medical foods (ketogenic formulas)". www.myketocal.com. Retrieved 2020-05-06.

nih.gov

pubmed.ncbi.nlm.nih.gov

Brown, G K; Otero, L J; LeGris, M; Brown, R M (November 1994). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.
Patel, Mulchand S.; Nemeria, Natalia S.; Furey, William; Jordan, Frank (2014-06-13). "The Pyruvate Dehydrogenase Complexes: Structure-based Function and Regulation". Journal of Biological Chemistry. 289 (24): 16615–16623. doi:10.1074/jbc.R114.563148. ISSN 0021-9258. PMC 4059105. PMID 24798336.
G K Brown; L J Otero; M LeGris; R M Brown (November 1994). "Pyruvate dehydrogenase deficiency". J Med Genet. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. PMC 1016663. PMID 7853374.
Patel, Kavi P.; O'Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W. (January 2012). "The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 371 Patients". Molecular Genetics and Metabolism. 105 (1): 34–43. doi:10.1016/j.ymgme.2011.09.032. ISSN 1096-7192. PMC 3754811. PMID 22079328.
Shin, Ha Kyung; Grahame, George; McCandless, Shawn E.; Kerr, Douglas S.; Bedoyan, Jirair K. (2017-11-01). "Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency". Molecular Genetics and Metabolism. 122 (3): 61–66. doi:10.1016/j.ymgme.2017.09.001. ISSN 1096-7192. PMC 5722699. PMID 28918066.
H H Dahl (March 1995). "Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again". Am J Hum Genet. 56 (3): 553–557. PMC 1801181. PMID 7887408.
Natarajan, Niranjana; Tully, Hannah M.; Chapman, Teresa (2016-08-01). "Prenatal presentation of pyruvate dehydrogenase complex deficiency". Pediatric Radiology. 46 (9): 1354–1357. doi:10.1007/s00247-016-3585-z. ISSN 1432-1998. PMC 6383724. PMID 27026023.
Imbard, A.; Boutron, A.; Vequaud, C.; Zater, M.; de Lonlay, P.; de Baulny, H. Ogier; Barnerias, C.; Miné, M.; Marsac, C.; Saudubray, J.-M.; Brivet, M. (December 2011). "Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein". Molecular Genetics and Metabolism. 104 (4): 507–516. doi:10.1016/j.ymgme.2011.08.008. ISSN 1096-7206. PMID 21914562.
Sofou, Kalliopi; Dahlin, Maria; Hallböök, Tove; Lindefeldt, Marie; Viggedal, Gerd; Darin, Niklas (2017). "Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes". Journal of Inherited Metabolic Disease. 40 (2): 237–245. doi:10.1007/s10545-016-0011-5. ISSN 1573-2665. PMC 5306430. PMID 28101805.
Stacpoole, Peter W.; Owen, Renius; Flotte, Terence R. (June 2003). "The pyruvate dehydrogenase complex as a target for gene therapy". Current Gene Therapy. 3 (3): 239–245. doi:10.2174/1566523034578320. ISSN 1566-5232. PMID 12762482.

ncbi.nlm.nih.gov

Brown, G K; Otero, L J; LeGris, M; Brown, R M (November 1994). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.
Patel, Mulchand S.; Nemeria, Natalia S.; Furey, William; Jordan, Frank (2014-06-13). "The Pyruvate Dehydrogenase Complexes: Structure-based Function and Regulation". Journal of Biological Chemistry. 289 (24): 16615–16623. doi:10.1074/jbc.R114.563148. ISSN 0021-9258. PMC 4059105. PMID 24798336.
G K Brown; L J Otero; M LeGris; R M Brown (November 1994). "Pyruvate dehydrogenase deficiency". J Med Genet. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. PMC 1016663. PMID 7853374.
Patel, Kavi P.; O'Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W. (January 2012). "The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 371 Patients". Molecular Genetics and Metabolism. 105 (1): 34–43. doi:10.1016/j.ymgme.2011.09.032. ISSN 1096-7192. PMC 3754811. PMID 22079328.
Shin, Ha Kyung; Grahame, George; McCandless, Shawn E.; Kerr, Douglas S.; Bedoyan, Jirair K. (2017-11-01). "Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency". Molecular Genetics and Metabolism. 122 (3): 61–66. doi:10.1016/j.ymgme.2017.09.001. ISSN 1096-7192. PMC 5722699. PMID 28918066.
H H Dahl (March 1995). "Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again". Am J Hum Genet. 56 (3): 553–557. PMC 1801181. PMID 7887408.
Natarajan, Niranjana; Tully, Hannah M.; Chapman, Teresa (2016-08-01). "Prenatal presentation of pyruvate dehydrogenase complex deficiency". Pediatric Radiology. 46 (9): 1354–1357. doi:10.1007/s00247-016-3585-z. ISSN 1432-1998. PMC 6383724. PMID 27026023.
Sofou, Kalliopi; Dahlin, Maria; Hallböök, Tove; Lindefeldt, Marie; Viggedal, Gerd; Darin, Niklas (2017). "Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes". Journal of Inherited Metabolic Disease. 40 (2): 237–245. doi:10.1007/s10545-016-0011-5. ISSN 1573-2665. PMC 5306430. PMID 28101805.

ghr.nlm.nih.gov

Reference, Genetics Home. "pyruvate dehydrogenase deficiency". Genetics Home Reference. Retrieved 2016-11-08.

omim.org

Cassandra L. Kniffin (28 October 2014). "pyruvate dehydrogenase E1-alpha deficiency; PDHAD". Online Mendelian Inheritance in Man. Johns Hopkins University. Entry # 312170. Retrieved 2016-11-09.
"Phenotypic Series - PS312170 Pyruvate dehydrogenase complex deficiency - PS312170 - 6 Entries". OMIM - Online Mendelian Inheritance In Man.

orpha.net

Garry Brown, ed. (April 2012). "Pyruvate dehydrogenase deficiency". Orphanet. ORPHA765. Retrieved 8 November 2016.

sciencedirect.com

DeBrosse, Suzanne D.; Kerr, Douglas S. (2016-01-01), Saneto, Russell P.; Parikh, Sumit; Cohen, Bruce H. (eds.), "Chapter 12 - Pyruvate Dehydrogenase Complex Deficiency", Mitochondrial Case Studies, Boston: Academic Press, pp. 93–101, ISBN 978-0-12-800877-5, retrieved 2023-04-30

worldcat.org

search.worldcat.org

Brown, G K; Otero, L J; LeGris, M; Brown, R M (November 1994). "Pyruvate dehydrogenase deficiency". Journal of Medical Genetics. 31 (11): 875–879. doi:10.1136/jmg.31.11.875. ISSN 0022-2593. PMC 1016663. PMID 7853374.
Patel, Mulchand S.; Nemeria, Natalia S.; Furey, William; Jordan, Frank (2014-06-13). "The Pyruvate Dehydrogenase Complexes: Structure-based Function and Regulation". Journal of Biological Chemistry. 289 (24): 16615–16623. doi:10.1074/jbc.R114.563148. ISSN 0021-9258. PMC 4059105. PMID 24798336.
Patel, Kavi P.; O'Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W. (January 2012). "The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 371 Patients". Molecular Genetics and Metabolism. 105 (1): 34–43. doi:10.1016/j.ymgme.2011.09.032. ISSN 1096-7192. PMC 3754811. PMID 22079328.
Shin, Ha Kyung; Grahame, George; McCandless, Shawn E.; Kerr, Douglas S.; Bedoyan, Jirair K. (2017-11-01). "Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency". Molecular Genetics and Metabolism. 122 (3): 61–66. doi:10.1016/j.ymgme.2017.09.001. ISSN 1096-7192. PMC 5722699. PMID 28918066.
Natarajan, Niranjana; Tully, Hannah M.; Chapman, Teresa (2016-08-01). "Prenatal presentation of pyruvate dehydrogenase complex deficiency". Pediatric Radiology. 46 (9): 1354–1357. doi:10.1007/s00247-016-3585-z. ISSN 1432-1998. PMC 6383724. PMID 27026023.
Imbard, A.; Boutron, A.; Vequaud, C.; Zater, M.; de Lonlay, P.; de Baulny, H. Ogier; Barnerias, C.; Miné, M.; Marsac, C.; Saudubray, J.-M.; Brivet, M. (December 2011). "Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein". Molecular Genetics and Metabolism. 104 (4): 507–516. doi:10.1016/j.ymgme.2011.08.008. ISSN 1096-7206. PMID 21914562.
Sofou, Kalliopi; Dahlin, Maria; Hallböök, Tove; Lindefeldt, Marie; Viggedal, Gerd; Darin, Niklas (2017). "Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes". Journal of Inherited Metabolic Disease. 40 (2): 237–245. doi:10.1007/s10545-016-0011-5. ISSN 1573-2665. PMC 5306430. PMID 28101805.
Stacpoole, Peter W.; Owen, Renius; Flotte, Terence R. (June 2003). "The pyruvate dehydrogenase complex as a target for gene therapy". Current Gene Therapy. 3 (3): 239–245. doi:10.2174/1566523034578320. ISSN 1566-5232. PMID 12762482.