Propionic acidemia (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Propionic acidemia" in English language version.

refsWebsite

Global rank English rank

18nih.gov

4^th place

7doi.org

2^nd place

4worldcat.org

5^th place

3semanticscholar.org

11^th place

8^th place

1omim.org

4,380^th place

4,305^th place

1nature.com

234^th place

397^th place

1mayo.edu

low place

1web.archive.org

1^st place

1paresearch.org

low place

doi.org

Ravn K; Chloupkova M; Christensen E; Brandt NJ; Simonsen H; Kraus JP; Nielsen IM; Skovby F; Schwartz M (July 2000). "High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase". American Journal of Human Genetics. 67 (1): 203–206. doi:10.1086/302971. PMC 1287078. PMID 10820128.
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C (2006). "Methylmalonic and propionic aciduria". Am J Med Genet C Semin Med Genet. 142 (2): 104–112. doi:10.1002/ajmg.c.30090. PMID 16602092. S2CID 21114631.
Hamilton RL, Haas RH, Nyhan WC, Powell HC, Grafe MR (1995). "Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions". Journal of Child Neurology. 10 (1): 25–30. doi:10.1177/088307389501000107. PMID 7769173. S2CID 12674920.
Shchelochkov, Oleg A.; Manoli, Irini; Juneau, Paul; Sloan, Jennifer L.; Ferry, Susan; Myles, Jennifer; Schoenfeld, Megan; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Wenger, Olivia; Levin, Mark; Zein, Wadih; Huryn, Laryssa; Snow, Joseph (August 2021). "Severity modeling of propionic acidemia using clinical and laboratory biomarkers". Genetics in Medicine. 23 (8): 1534–1542. doi:10.1038/s41436-021-01173-2. ISSN 1530-0366. PMC 8354856. PMID 34007002. S2CID 234779025.
Shchelochkov, Oleg A.; Farmer, Cristan A.; Chlebowski, Colby; Adedipe, Dee; Ferry, Susan; Manoli, Irini; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Sloan, Jennifer; Thurm, Audrey; Venditti, Charles P. (2024-01-11). "Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology". Molecular Psychiatry: 1–8. doi:10.1038/s41380-023-02385-5. ISSN 1476-5578. PMC 11176071.
Shchelochkov, Oleg A.; Manoli, Irini; Sloan, Jennifer L.; Ferry, Susan; Pass, Alexandra; Van Ryzin, Carol; Myles, Jennifer; Schoenfeld, Megan; McGuire, Peter; Rosing, Douglas R.; Levin, Mark D. (2019-06-28). "Chronic kidney disease in propionic acidemia". Genetics in Medicine. 21 (12): 2830–2835. doi:10.1038/s41436-019-0593-z. ISSN 1530-0366. PMC 7045176. PMID 31249402.
Dercksen, M.; IJlst, L.; Duran, M.; Mienie, L. J.; van Cruchten, A.; van der Westhuizen, F. H.; Wanders, R. J. A. (December 2014). "Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1842 (12 Pt A): 2510–2516. doi:10.1016/j.bbadis.2013.04.027. ISSN 0006-3002. PMID 23643712.

mayo.edu

mayoresearch.mayo.edu

http://mayoresearch.mayo.edu/mayo/research/barry_lab/ropionic-Aciademia.cfm Archived 2008-08-29 at the Wayback Machine
Barry Lab - Vector and Virus Engineering. Gene therapy for Propionic Acidemia

nature.com

Shchelochkov, Oleg A.; Farmer, Cristan A.; Chlebowski, Colby; Adedipe, Dee; Ferry, Susan; Manoli, Irini; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Sloan, Jennifer; Thurm, Audrey; Venditti, Charles P. (2024-01-11). "Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology". Molecular Psychiatry: 1–8. doi:10.1038/s41380-023-02385-5. ISSN 1476-5578. PMC 11176071.

nih.gov

pubmed.ncbi.nlm.nih.gov

Ravn K; Chloupkova M; Christensen E; Brandt NJ; Simonsen H; Kraus JP; Nielsen IM; Skovby F; Schwartz M (July 2000). "High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase". American Journal of Human Genetics. 67 (1): 203–206. doi:10.1086/302971. PMC 1287078. PMID 10820128.
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C (2006). "Methylmalonic and propionic aciduria". Am J Med Genet C Semin Med Genet. 142 (2): 104–112. doi:10.1002/ajmg.c.30090. PMID 16602092. S2CID 21114631.
Hamilton RL, Haas RH, Nyhan WC, Powell HC, Grafe MR (1995). "Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions". Journal of Child Neurology. 10 (1): 25–30. doi:10.1177/088307389501000107. PMID 7769173. S2CID 12674920.
Shchelochkov, Oleg A.; Manoli, Irini; Juneau, Paul; Sloan, Jennifer L.; Ferry, Susan; Myles, Jennifer; Schoenfeld, Megan; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Wenger, Olivia; Levin, Mark; Zein, Wadih; Huryn, Laryssa; Snow, Joseph (August 2021). "Severity modeling of propionic acidemia using clinical and laboratory biomarkers". Genetics in Medicine. 23 (8): 1534–1542. doi:10.1038/s41436-021-01173-2. ISSN 1530-0366. PMC 8354856. PMID 34007002. S2CID 234779025.
Shchelochkov, Oleg A.; Carrillo, Nuria; Venditti, Charles (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Propionic Acidemia", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 22593918, retrieved 2022-11-26
Shchelochkov, Oleg A.; Manoli, Irini; Sloan, Jennifer L.; Ferry, Susan; Pass, Alexandra; Van Ryzin, Carol; Myles, Jennifer; Schoenfeld, Megan; McGuire, Peter; Rosing, Douglas R.; Levin, Mark D. (2019-06-28). "Chronic kidney disease in propionic acidemia". Genetics in Medicine. 21 (12): 2830–2835. doi:10.1038/s41436-019-0593-z. ISSN 1530-0366. PMC 7045176. PMID 31249402.
Shchelochkov, Oleg A.; Carrillo, Nuria; Venditti, Charles (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Propionic Acidemia", GeneReviews®, University of Washington, Seattle, PMID 22593918, retrieved 2019-09-29
Dercksen, M.; IJlst, L.; Duran, M.; Mienie, L. J.; van Cruchten, A.; van der Westhuizen, F. H.; Wanders, R. J. A. (December 2014). "Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1842 (12 Pt A): 2510–2516. doi:10.1016/j.bbadis.2013.04.027. ISSN 0006-3002. PMID 23643712.
Al-Odaib AN, Abu-Amaro KK, Ozand PT, Al-Hellani AM (2003). "A new era for preventive genetic programs in the Arabian Peninsula". Saudi Medical Journal. 24 (11): 1168–1175. PMID 14647548.
Kidd JR, Wolf B, Hsia E, Kidd KK (1980). "Genetics of propionic acidemia in a Mennonite-Amish kindred". Am J Hum Genet. 32 (2): 236–245. PMC 1686010. PMID 7386459.

ncbi.nlm.nih.gov

Ravn K; Chloupkova M; Christensen E; Brandt NJ; Simonsen H; Kraus JP; Nielsen IM; Skovby F; Schwartz M (July 2000). "High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase". American Journal of Human Genetics. 67 (1): 203–206. doi:10.1086/302971. PMC 1287078. PMID 10820128.
Shchelochkov, Oleg A.; Manoli, Irini; Juneau, Paul; Sloan, Jennifer L.; Ferry, Susan; Myles, Jennifer; Schoenfeld, Megan; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Wenger, Olivia; Levin, Mark; Zein, Wadih; Huryn, Laryssa; Snow, Joseph (August 2021). "Severity modeling of propionic acidemia using clinical and laboratory biomarkers". Genetics in Medicine. 23 (8): 1534–1542. doi:10.1038/s41436-021-01173-2. ISSN 1530-0366. PMC 8354856. PMID 34007002. S2CID 234779025.
Shchelochkov, Oleg A.; Carrillo, Nuria; Venditti, Charles (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Propionic Acidemia", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 22593918, retrieved 2022-11-26
Shchelochkov, Oleg A.; Farmer, Cristan A.; Chlebowski, Colby; Adedipe, Dee; Ferry, Susan; Manoli, Irini; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Sloan, Jennifer; Thurm, Audrey; Venditti, Charles P. (2024-01-11). "Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology". Molecular Psychiatry: 1–8. doi:10.1038/s41380-023-02385-5. ISSN 1476-5578. PMC 11176071.
Shchelochkov, Oleg A.; Manoli, Irini; Sloan, Jennifer L.; Ferry, Susan; Pass, Alexandra; Van Ryzin, Carol; Myles, Jennifer; Schoenfeld, Megan; McGuire, Peter; Rosing, Douglas R.; Levin, Mark D. (2019-06-28). "Chronic kidney disease in propionic acidemia". Genetics in Medicine. 21 (12): 2830–2835. doi:10.1038/s41436-019-0593-z. ISSN 1530-0366. PMC 7045176. PMID 31249402.
Shchelochkov, Oleg A.; Carrillo, Nuria; Venditti, Charles (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Propionic Acidemia", GeneReviews®, University of Washington, Seattle, PMID 22593918, retrieved 2019-09-29
Kidd JR, Wolf B, Hsia E, Kidd KK (1980). "Genetics of propionic acidemia in a Mennonite-Amish kindred". Am J Hum Genet. 32 (2): 236–245. PMC 1686010. PMID 7386459.

rarediseases.info.nih.gov

"Propionic acidemia". National Center for Advancing Translational Sciences. 2 Dec 2015. Retrieved 6 June 2018.

omim.org

Online Mendelian Inheritance in Man (OMIM): 606054

paresearch.org

Hsia, T. (2003). "How Ketotic Hyperglycinemia Became Propionic Acidemia" (PDF). Paresearch.org. Retrieved 7 June 2018.

semanticscholar.org

api.semanticscholar.org

Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C (2006). "Methylmalonic and propionic aciduria". Am J Med Genet C Semin Med Genet. 142 (2): 104–112. doi:10.1002/ajmg.c.30090. PMID 16602092. S2CID 21114631.
Hamilton RL, Haas RH, Nyhan WC, Powell HC, Grafe MR (1995). "Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions". Journal of Child Neurology. 10 (1): 25–30. doi:10.1177/088307389501000107. PMID 7769173. S2CID 12674920.
Shchelochkov, Oleg A.; Manoli, Irini; Juneau, Paul; Sloan, Jennifer L.; Ferry, Susan; Myles, Jennifer; Schoenfeld, Megan; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Wenger, Olivia; Levin, Mark; Zein, Wadih; Huryn, Laryssa; Snow, Joseph (August 2021). "Severity modeling of propionic acidemia using clinical and laboratory biomarkers". Genetics in Medicine. 23 (8): 1534–1542. doi:10.1038/s41436-021-01173-2. ISSN 1530-0366. PMC 8354856. PMID 34007002. S2CID 234779025.

web.archive.org

http://mayoresearch.mayo.edu/mayo/research/barry_lab/ropionic-Aciademia.cfm Archived 2008-08-29 at the Wayback Machine
Barry Lab - Vector and Virus Engineering. Gene therapy for Propionic Acidemia

worldcat.org

Shchelochkov, Oleg A.; Manoli, Irini; Juneau, Paul; Sloan, Jennifer L.; Ferry, Susan; Myles, Jennifer; Schoenfeld, Megan; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Wenger, Olivia; Levin, Mark; Zein, Wadih; Huryn, Laryssa; Snow, Joseph (August 2021). "Severity modeling of propionic acidemia using clinical and laboratory biomarkers". Genetics in Medicine. 23 (8): 1534–1542. doi:10.1038/s41436-021-01173-2. ISSN 1530-0366. PMC 8354856. PMID 34007002. S2CID 234779025.
Shchelochkov, Oleg A.; Farmer, Cristan A.; Chlebowski, Colby; Adedipe, Dee; Ferry, Susan; Manoli, Irini; Pass, Alexandra; McCoy, Samantha; Van Ryzin, Carol; Sloan, Jennifer; Thurm, Audrey; Venditti, Charles P. (2024-01-11). "Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology". Molecular Psychiatry: 1–8. doi:10.1038/s41380-023-02385-5. ISSN 1476-5578. PMC 11176071.
Shchelochkov, Oleg A.; Manoli, Irini; Sloan, Jennifer L.; Ferry, Susan; Pass, Alexandra; Van Ryzin, Carol; Myles, Jennifer; Schoenfeld, Megan; McGuire, Peter; Rosing, Douglas R.; Levin, Mark D. (2019-06-28). "Chronic kidney disease in propionic acidemia". Genetics in Medicine. 21 (12): 2830–2835. doi:10.1038/s41436-019-0593-z. ISSN 1530-0366. PMC 7045176. PMID 31249402.
Dercksen, M.; IJlst, L.; Duran, M.; Mienie, L. J.; van Cruchten, A.; van der Westhuizen, F. H.; Wanders, R. J. A. (December 2014). "Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1842 (12 Pt A): 2510–2516. doi:10.1016/j.bbadis.2013.04.027. ISSN 0006-3002. PMID 23643712.