Aciduria 2-Hidroxiglutarică (Romanian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Aciduria 2-Hidroxiglutarică" in Romanian language version.

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10nih.gov

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8doi.org

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1oxfordjournals.org

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1worldcat.org

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1harvard.edu

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1orpha.net

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doi.org

„L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings”. Arch. Neurol. 62 (4): 666–670. 2005. doi:10.1001/archneur.62.4.666. PMID 15824270.
„L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1”. Hum. Mol. Genet. 13 (22): 2803–11. noiembrie 2004. doi:10.1093/hmg/ddh300. PMID 15385440.
Van Schaftingen, E.; Rzem, R.; Veiga-da-Cunha, M. (1 aprilie 2009). „L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair”. Journal of Inherited Metabolic Disease. 32 (2): 135–142. doi:10.1007/s10545-008-1042-3. ISSN 1573-2665. PMID 19020988.
„D-2-hydroxyglutaric aciduria”. J. Child Neurol. 10 (2): 137–142. 1995. doi:10.1177/088307389501000216. PMID 7782605.
„Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria”. Am J Hum Genet. 76 (2): 358–60. 2005. doi:10.1086/427890. PMC 1196381 . PMID 15609246.
„IDH2 mutations in patients with D-2-hydroxyglutaric aciduria”. Science. 330 (6002): 336. 2010. Bibcode:2010Sci...330..336K. doi:10.1126/science.1192632. PMID 20847235.
„Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?”. Neuropediatrics. 31 (3): 137–40. 2000. doi:10.1055/s-2000-7497. PMID 10963100.
Nota B; et al. (2013). „Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria”. The American Journal of Human Genetics. 92 (4): 627–631. doi:10.1016/j.ajhg.2013.03.009. PMC 3617390 . PMID 23561848.

harvard.edu

adsabs.harvard.edu

„IDH2 mutations in patients with D-2-hydroxyglutaric aciduria”. Science. 330 (6002): 336. 2010. Bibcode:2010Sci...330..336K. doi:10.1126/science.1192632. PMID 20847235.

nih.gov

ncbi.nlm.nih.gov

„L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings”. Arch. Neurol. 62 (4): 666–670. 2005. doi:10.1001/archneur.62.4.666. PMID 15824270.
„L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1”. Hum. Mol. Genet. 13 (22): 2803–11. noiembrie 2004. doi:10.1093/hmg/ddh300. PMID 15385440.
Van Schaftingen, E.; Rzem, R.; Veiga-da-Cunha, M. (1 aprilie 2009). „L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair”. Journal of Inherited Metabolic Disease. 32 (2): 135–142. doi:10.1007/s10545-008-1042-3. ISSN 1573-2665. PMID 19020988.
„D-2-hydroxyglutaric aciduria”. J. Child Neurol. 10 (2): 137–142. 1995. doi:10.1177/088307389501000216. PMID 7782605.
„Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria”. Am J Hum Genet. 76 (2): 358–60. 2005. doi:10.1086/427890. PMC 1196381 . PMID 15609246.
„IDH2 mutations in patients with D-2-hydroxyglutaric aciduria”. Science. 330 (6002): 336. 2010. Bibcode:2010Sci...330..336K. doi:10.1126/science.1192632. PMID 20847235.
„Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?”. Neuropediatrics. 31 (3): 137–40. 2000. doi:10.1055/s-2000-7497. PMID 10963100.
Nota B; et al. (2013). „Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria”. The American Journal of Human Genetics. 92 (4): 627–631. doi:10.1016/j.ajhg.2013.03.009. PMC 3617390 . PMID 23561848.

ghr.nlm.nih.gov

Reference, Genetics Home. „2-hydroxyglutaric aciduria”. Genetics Home Reference (în engleză). Accesat în 25 ianuarie 2017.

rarediseases.info.nih.gov

„L-2-hydroxyglutaric aciduria | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program”. rarediseases.info.nih.gov (în engleză). Accesat în 25 ianuarie 2017.

orpha.net

RESERVED, INSERM US14 -- ALL RIGHTS. „Orphanet: D 2 hydroxyglutaric aciduria”. www.orpha.net (în engleză). Accesat în 25 ianuarie 2017.

oxfordjournals.org

hmg.oxfordjournals.org

„L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1”. Hum. Mol. Genet. 13 (22): 2803–11. noiembrie 2004. doi:10.1093/hmg/ddh300. PMID 15385440.

worldcat.org

Van Schaftingen, E.; Rzem, R.; Veiga-da-Cunha, M. (1 aprilie 2009). „L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair”. Journal of Inherited Metabolic Disease. 32 (2): 135–142. doi:10.1007/s10545-008-1042-3. ISSN 1573-2665. PMID 19020988.