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Glutaric aciduria type 1 (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Glutaric aciduria type 1" in English language version.

refsWebsite
Global rank English rank
19nih.gov
4th place
4th place
15doi.org
2nd place
2nd place
9semanticscholar.org
11th place
8th place
1unirioja.es
1,252nd place
3,384th place
1frontiersin.org
4,679th place
low place

doi.org

  • Chow, S. L.; Rohan, C.; Morris, A. A. M.; Morris, A. A. M. (2003). "Case Report: Rhabdomyolysis in Glutaric Aciduria Type I". Journal of Inherited Metabolic Disease. 26 (7): 711–712. doi:10.1023/b:boli.0000005635.89043.8a. PMID 14707521. S2CID 11882529.
  • Mahfoud Hawilou, Antonieta; Domínguez Méndez, Carmen Luisa; Rizzo, Cristiano; Ribes Rubio, Antonia (2004). "Macrocefalia in utero como manifestación clínica de aciduria glutárica tipo I. Informe de una nueva mutación" [In Utero Macrocephaly as Clinical Manifestation of Glutaric Aciduria Type I. Report of a Novel Mutation]. Revista de Neurología (in Spanish). 39 (10): 939–942. doi:10.33588/rn.3910.2004258. PMID 15573311.
  • Strauss, Kevin A.; Puffenberger, Erik G.; Robinson, Donna L.; Morton, D. Holmes (15 August 2003). "Type I glutaric aciduria, part 1: Natural history of 77 patients". American Journal of Medical Genetics. 121C (1): 38–52. doi:10.1002/ajmg.c.20007. PMID 12888985. S2CID 23370609.
  • Accogli A, Geraldo AF, Piccolo G, Riva A, Scala M, Balagura G, Salpietro V, Madia F, Maghnie M, Zara F, Striano P, Tortora D, Severino M and Capra V (2022) Diagnostic Approach to Macrocephaly in Children. Frontiers in Pediatrics 9:794069. doi:10.3389/fped.2021.794069
  • Christensen E, Aracil A, Vilaseca MA, Busquets C, Ribes A, Pineda M (1998). "Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity". Dev Med Child Neurol. 40 (12): 840–2. doi:10.1111/j.1469-8749.1998.tb12362.x. PMID 9881681.
  • Christensen, E.; Ribes, A.; Merinero, B.; Zschocke, J. (2004). "Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency". Journal of Inherited Metabolic Disease. 27 (6): 861–868. doi:10.1023/B:BOLI.0000045770.93429.3c. PMID 15505393. S2CID 24612304.
  • Whelan, DT; Hill, R; Ryan, ED; Spate, M (January 1979). "L-Glutaric acidemia: investigation of a patient and his family". Pediatrics. 63 (1): 88–93. doi:10.1542/peds.63.1.88. PMID 440804. S2CID 41194171.
  • Winter, S. C. (2003). "Treatment of carnitine deficiency". Journal of Inherited Metabolic Disease. 26 (2): 171–180. doi:10.1023/a:1024433100257. PMID 12889658. S2CID 5563622.
  • Brass, Eric P (August 2000). "Supplemental carnitine and exercise". The American Journal of Clinical Nutrition. 72 (2): 618S – 623S. doi:10.1093/ajcn/72.2.618S. PMID 10919968.
  • Daily, James W.; Sachan, Dileep S. (July 1995). "Choline Supplementation Alters Carnitine Homeostasis in Humans and Guinea Pigs". The Journal of Nutrition. 125 (7): 1938–1944. doi:10.1093/jn/125.7.1938. PMID 7616311.
  • Kölker, Stefan; Garbade, Sven F; Greenberg, Cheryl R; Leonard, James V; Saudubray, Jean-Marie; Ribes, Antonia; Kalkanoglu, H Serap; Lund, Allan M; Merinero, Begoña; Wajner, Moacir; Troncoso, Mónica; Williams, Monique; Walter, John H; Campistol, Jaume; MartÍ-Herrero, Milagros; Caswill, Melissa; Burlina, Alberto B; Lagler, Florian; Maier, Esther M; Schwahn, Bernd; Tokatli, Aysegul; Dursun, Ali; Coskun, Turgay; Chalmers, Ronald A; Koeller, David M; Zschocke, Johannes; Christensen, Ernst; Burgard, Peter; Hoffmann, Georg F (June 2006). "Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency". Pediatric Research. 59 (6): 840–847. doi:10.1203/01.pdr.0000219387.79887.86. PMID 16641220.
  • Gokcay, G.; Baykal, T.; Gokdemir, Y.; Demirkol, M. (April 2006). "Breast feeding in organic acidaemias". Journal of Inherited Metabolic Disease. 29 (2–3): 304–310. doi:10.1007/s10545-005-0255-y. PMID 16763892. S2CID 3147346.
  • Lovat, R.; Preiser, J. C. (2003). "Antioxidant therapy in intensive care". Current Opinion in Critical Care. 9 (4): 266–270. doi:10.1097/00075198-200308000-00003. PMID 12883280. S2CID 19893545.
  • Hartvig, P.; Lindner, K. J.; Bjurling, P.; Långström, B.; Tedroff, J. (June 1995). "Pyridoxine effect on synthesis rate of serotonin in the monkey brain measured with positron emission tomography". Journal of Neural Transmission. 102 (2): 91–97. doi:10.1007/BF01276505. PMID 8748674. S2CID 39796582.
  • Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael B.; Okun, Jürgen G.; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes; Kölker, Stefan (16 November 2016). "Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision". Journal of Inherited Metabolic Disease. 40 (1): 75–101. doi:10.1007/s10545-016-9999-9. PMID 27853989. S2CID 6316667.

frontiersin.org

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Chow, S. L.; Rohan, C.; Morris, A. A. M.; Morris, A. A. M. (2003). "Case Report: Rhabdomyolysis in Glutaric Aciduria Type I". Journal of Inherited Metabolic Disease. 26 (7): 711–712. doi:10.1023/b:boli.0000005635.89043.8a. PMID 14707521. S2CID 11882529.
  • Mahfoud Hawilou, Antonieta; Domínguez Méndez, Carmen Luisa; Rizzo, Cristiano; Ribes Rubio, Antonia (2004). "Macrocefalia in utero como manifestación clínica de aciduria glutárica tipo I. Informe de una nueva mutación" [In Utero Macrocephaly as Clinical Manifestation of Glutaric Aciduria Type I. Report of a Novel Mutation]. Revista de Neurología (in Spanish). 39 (10): 939–942. doi:10.33588/rn.3910.2004258. PMID 15573311.
  • Martínez Granero, MA; Garcia Pérez, A; Martínez-Pardo, M; Parra, E (2005). "Macrocefalia como forma de presentación de la aciduria glutárica tipo 1. Importancia de un diagnóstico precoz" [Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis]. Neurología. 20 (5): 255–260. PMID 15954035.
  • Strauss, Kevin A.; Puffenberger, Erik G.; Robinson, Donna L.; Morton, D. Holmes (15 August 2003). "Type I glutaric aciduria, part 1: Natural history of 77 patients". American Journal of Medical Genetics. 121C (1): 38–52. doi:10.1002/ajmg.c.20007. PMID 12888985. S2CID 23370609.
  • Christensen E, Aracil A, Vilaseca MA, Busquets C, Ribes A, Pineda M (1998). "Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity". Dev Med Child Neurol. 40 (12): 840–2. doi:10.1111/j.1469-8749.1998.tb12362.x. PMID 9881681.
  • Christensen, E.; Ribes, A.; Merinero, B.; Zschocke, J. (2004). "Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency". Journal of Inherited Metabolic Disease. 27 (6): 861–868. doi:10.1023/B:BOLI.0000045770.93429.3c. PMID 15505393. S2CID 24612304.
  • Larson, Austin; Goodman, Steve (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Glutaric Acidemia Type 1", GeneReviews, Seattle (WA): University of Washington, Seattle, PMID 31536184, retrieved 2022-01-08
  • Whelan, DT; Hill, R; Ryan, ED; Spate, M (January 1979). "L-Glutaric acidemia: investigation of a patient and his family". Pediatrics. 63 (1): 88–93. doi:10.1542/peds.63.1.88. PMID 440804. S2CID 41194171.
  • Winter, S. C. (2003). "Treatment of carnitine deficiency". Journal of Inherited Metabolic Disease. 26 (2): 171–180. doi:10.1023/a:1024433100257. PMID 12889658. S2CID 5563622.
  • Brass, Eric P (August 2000). "Supplemental carnitine and exercise". The American Journal of Clinical Nutrition. 72 (2): 618S – 623S. doi:10.1093/ajcn/72.2.618S. PMID 10919968.
  • Daily, James W.; Sachan, Dileep S. (July 1995). "Choline Supplementation Alters Carnitine Homeostasis in Humans and Guinea Pigs". The Journal of Nutrition. 125 (7): 1938–1944. doi:10.1093/jn/125.7.1938. PMID 7616311.
  • Kölker, Stefan; Garbade, Sven F; Greenberg, Cheryl R; Leonard, James V; Saudubray, Jean-Marie; Ribes, Antonia; Kalkanoglu, H Serap; Lund, Allan M; Merinero, Begoña; Wajner, Moacir; Troncoso, Mónica; Williams, Monique; Walter, John H; Campistol, Jaume; MartÍ-Herrero, Milagros; Caswill, Melissa; Burlina, Alberto B; Lagler, Florian; Maier, Esther M; Schwahn, Bernd; Tokatli, Aysegul; Dursun, Ali; Coskun, Turgay; Chalmers, Ronald A; Koeller, David M; Zschocke, Johannes; Christensen, Ernst; Burgard, Peter; Hoffmann, Georg F (June 2006). "Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency". Pediatric Research. 59 (6): 840–847. doi:10.1203/01.pdr.0000219387.79887.86. PMID 16641220.
  • Gokcay, G.; Baykal, T.; Gokdemir, Y.; Demirkol, M. (April 2006). "Breast feeding in organic acidaemias". Journal of Inherited Metabolic Disease. 29 (2–3): 304–310. doi:10.1007/s10545-005-0255-y. PMID 16763892. S2CID 3147346.
  • Young SN (1993). "The use of diet and dietary components in the study of factors controlling affect in humans: a review". J Psychiatry Neurosci. 18 (5): 235–44. PMC 1188544. PMID 8297922.
  • Lovat, R.; Preiser, J. C. (2003). "Antioxidant therapy in intensive care". Current Opinion in Critical Care. 9 (4): 266–270. doi:10.1097/00075198-200308000-00003. PMID 12883280. S2CID 19893545.
  • Hartvig, P.; Lindner, K. J.; Bjurling, P.; Långström, B.; Tedroff, J. (June 1995). "Pyridoxine effect on synthesis rate of serotonin in the monkey brain measured with positron emission tomography". Journal of Neural Transmission. 102 (2): 91–97. doi:10.1007/BF01276505. PMID 8748674. S2CID 39796582.
  • Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael B.; Okun, Jürgen G.; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes; Kölker, Stefan (16 November 2016). "Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision". Journal of Inherited Metabolic Disease. 40 (1): 75–101. doi:10.1007/s10545-016-9999-9. PMID 27853989. S2CID 6316667.

ncbi.nlm.nih.gov

semanticscholar.org

api.semanticscholar.org

  • Chow, S. L.; Rohan, C.; Morris, A. A. M.; Morris, A. A. M. (2003). "Case Report: Rhabdomyolysis in Glutaric Aciduria Type I". Journal of Inherited Metabolic Disease. 26 (7): 711–712. doi:10.1023/b:boli.0000005635.89043.8a. PMID 14707521. S2CID 11882529.
  • Strauss, Kevin A.; Puffenberger, Erik G.; Robinson, Donna L.; Morton, D. Holmes (15 August 2003). "Type I glutaric aciduria, part 1: Natural history of 77 patients". American Journal of Medical Genetics. 121C (1): 38–52. doi:10.1002/ajmg.c.20007. PMID 12888985. S2CID 23370609.
  • Christensen, E.; Ribes, A.; Merinero, B.; Zschocke, J. (2004). "Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency". Journal of Inherited Metabolic Disease. 27 (6): 861–868. doi:10.1023/B:BOLI.0000045770.93429.3c. PMID 15505393. S2CID 24612304.
  • Whelan, DT; Hill, R; Ryan, ED; Spate, M (January 1979). "L-Glutaric acidemia: investigation of a patient and his family". Pediatrics. 63 (1): 88–93. doi:10.1542/peds.63.1.88. PMID 440804. S2CID 41194171.
  • Winter, S. C. (2003). "Treatment of carnitine deficiency". Journal of Inherited Metabolic Disease. 26 (2): 171–180. doi:10.1023/a:1024433100257. PMID 12889658. S2CID 5563622.
  • Gokcay, G.; Baykal, T.; Gokdemir, Y.; Demirkol, M. (April 2006). "Breast feeding in organic acidaemias". Journal of Inherited Metabolic Disease. 29 (2–3): 304–310. doi:10.1007/s10545-005-0255-y. PMID 16763892. S2CID 3147346.
  • Lovat, R.; Preiser, J. C. (2003). "Antioxidant therapy in intensive care". Current Opinion in Critical Care. 9 (4): 266–270. doi:10.1097/00075198-200308000-00003. PMID 12883280. S2CID 19893545.
  • Hartvig, P.; Lindner, K. J.; Bjurling, P.; Långström, B.; Tedroff, J. (June 1995). "Pyridoxine effect on synthesis rate of serotonin in the monkey brain measured with positron emission tomography". Journal of Neural Transmission. 102 (2): 91–97. doi:10.1007/BF01276505. PMID 8748674. S2CID 39796582.
  • Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M.; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R.; Harting, Inga; Hoffmann, Georg F.; Karall, Daniela; Koeller, David M.; Krawinkel, Michael B.; Okun, Jürgen G.; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes; Kölker, Stefan (16 November 2016). "Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision". Journal of Inherited Metabolic Disease. 40 (1): 75–101. doi:10.1007/s10545-016-9999-9. PMID 27853989. S2CID 6316667.

unirioja.es

dialnet.unirioja.es