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Acidémie isovalérique (French Wikipedia)

Analysis of information sources in references of the Wikipedia article "Acidémie isovalérique" in French language version.

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5nih.gov
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3doi.org
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2web.archive.org
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1rarediseases.org
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1nestlehealthscience.nl
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1screening.nhs.uk
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1ommbid.com
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1metametrix.com
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1issn.org
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doi.org

dx.doi.org

  • Lee, Yw, Lee, Dh, Vockley, J et Kim, Nd, « Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia », Molecular Genetics and Metabolism, vol. 92, nos 1–2,‎ , p. 71–7 (PMID 17576084, PMCID 4136440, DOI 10.1016/j.ymgme.2007.05.003)
  • Dionisi-Vici, Deodato, Röschinger et Rhead, « Classical organic acidurias, propionic aciduria, methylmalonic aciduria, and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry », J Inherit Metab Dis, vol. 29, nos 2–3,‎ , p. 383–389 (PMID 16763906, DOI 10.1007/s10545-006-0278-z)
  • Grünert, Wendel, Lindner et Leichsenring, « Clinical and neurocognitive outcome in symptomatic isovaleric acidemia », Orphanet Journal of Rare Diseases, vol. 7,‎ , p. 9 (ISSN 1750-1172, PMID 22277694, PMCID 3292949, DOI 10.1186/1750-1172-7-9)

issn.org

portal.issn.org

metametrix.com

nestlehealthscience.nl

nih.gov

ncbi.nlm.nih.gov

  • Lee, Yw, Lee, Dh, Vockley, J et Kim, Nd, « Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia », Molecular Genetics and Metabolism, vol. 92, nos 1–2,‎ , p. 71–7 (PMID 17576084, PMCID 4136440, DOI 10.1016/j.ymgme.2007.05.003)
  • Dionisi-Vici, Deodato, Röschinger et Rhead, « Classical organic acidurias, propionic aciduria, methylmalonic aciduria, and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry », J Inherit Metab Dis, vol. 29, nos 2–3,‎ , p. 383–389 (PMID 16763906, DOI 10.1007/s10545-006-0278-z)
  • « Isovaleric acidemia. Clinical presentation of 6 cases », The Turkish Journal of Pediatrics, vol. 40, no 1,‎ , p. 111–119 (PMID 9673537)
  • Grünert, Wendel, Lindner et Leichsenring, « Clinical and neurocognitive outcome in symptomatic isovaleric acidemia », Orphanet Journal of Rare Diseases, vol. 7,‎ , p. 9 (ISSN 1750-1172, PMID 22277694, PMCID 3292949, DOI 10.1186/1750-1172-7-9)

ghr.nlm.nih.gov

ommbid.com

rarediseases.org

screening.nhs.uk

newbornbloodspot.screening.nhs.uk

web.archive.org