Sign In

Login

Password

Forgot Password ? Sign Up

Systemic primary carnitine deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Systemic primary carnitine deficiency" in English language version.

refsWebsite
Global rank English rank
2omim.org
4,380th place
4,305th place
2doi.org
2nd place
2nd place
2nih.gov
4th place
4th place
1orpha.net
3,537th place
7,177th place
1newbornscreening.info
low place
low place
1pharmaxchange.info
low place
7,837th place
1acmg.net
low place
low place
1web.archive.org
1st place
1st place
1hmr.fo
low place
low place
1dr.dk
1,346th place
1,831st place
1semanticscholar.org
11th place
8th place

acmg.net

doi.org

  • Lee, N. C.; Tang, N. L. S.; Chien, Y. H.; Chen, C. A.; Lin, S. J.; Chiu, P. C.; Huang, A. C.; Hwu, W. L. (2010). "Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening". Molecular Genetics and Metabolism. 100 (1): 46–50. doi:10.1016/j.ymgme.2009.12.015. PMID 20074989.
  • Lund, A. M.; Joensen, F.; Hougaard, D. M.; Jensen, L. K.; Christensen, E.; Christensen, M.; Nørgaard-Petersen, B.; Schwartz, M.; Skovby, F. (2007). "Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands". Journal of Inherited Metabolic Disease. 30 (3): 341–349. doi:10.1007/s10545-007-0527-9. PMID 17417720. S2CID 2162939.

dr.dk

hmr.fo

newbornscreening.info

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Lee, N. C.; Tang, N. L. S.; Chien, Y. H.; Chen, C. A.; Lin, S. J.; Chiu, P. C.; Huang, A. C.; Hwu, W. L. (2010). "Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening". Molecular Genetics and Metabolism. 100 (1): 46–50. doi:10.1016/j.ymgme.2009.12.015. PMID 20074989.
  • Lund, A. M.; Joensen, F.; Hougaard, D. M.; Jensen, L. K.; Christensen, E.; Christensen, M.; Nørgaard-Petersen, B.; Schwartz, M.; Skovby, F. (2007). "Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands". Journal of Inherited Metabolic Disease. 30 (3): 341–349. doi:10.1007/s10545-007-0527-9. PMID 17417720. S2CID 2162939.

omim.org

  • Online Mendelian Inheritance in Man (OMIM): 212140
  • "#212140; Carnitine Deficiency, Systemic Primary; SPCD". Johns Hopkins University. Retrieved 2012-06-03.

orpha.net

pharmaxchange.info

semanticscholar.org

api.semanticscholar.org

  • Lund, A. M.; Joensen, F.; Hougaard, D. M.; Jensen, L. K.; Christensen, E.; Christensen, M.; Nørgaard-Petersen, B.; Schwartz, M.; Skovby, F. (2007). "Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands". Journal of Inherited Metabolic Disease. 30 (3): 341–349. doi:10.1007/s10545-007-0527-9. PMID 17417720. S2CID 2162939.

web.archive.org