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Isovaleric acidemia (English Wikipedia)

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

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doi.org

  • Lee, Yw; Lee, Dh; Vockley, J; Kim, Nd; Lee, Yk; Ki, Cs (September 2007). "Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia". Molecular Genetics and Metabolism. 92 (1–2): 71–7. doi:10.1016/j.ymgme.2007.05.003. PMC 4136440. PMID 17576084.
  • Dionisi-Vici, C; Deodato, F; Röschinger, W; Rhead, W; et al. (2006). "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. 29 (2–3): 383–389. doi:10.1007/s10545-006-0278-z. PMID 16763906. S2CID 19710669.
  • Grünert, Sarah C.; Wendel, Udo; Lindner, Martin; Leichsenring, Michael; Schwab, K. Otfried; Vockley, Jerry; Lehnert, Willy; Ensenauer, Regina (2012-01-01). "Clinical and neurocognitive outcome in symptomatic isovaleric acidemia". Orphanet Journal of Rare Diseases. 7: 9. doi:10.1186/1750-1172-7-9. ISSN 1750-1172. PMC 3292949. PMID 22277694.

metametrix.com

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Lee, Yw; Lee, Dh; Vockley, J; Kim, Nd; Lee, Yk; Ki, Cs (September 2007). "Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia". Molecular Genetics and Metabolism. 92 (1–2): 71–7. doi:10.1016/j.ymgme.2007.05.003. PMC 4136440. PMID 17576084.
  • Dionisi-Vici, C; Deodato, F; Röschinger, W; Rhead, W; et al. (2006). "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. 29 (2–3): 383–389. doi:10.1007/s10545-006-0278-z. PMID 16763906. S2CID 19710669.
  • Tokatli A, Oskun T, Ozalp I (1998). "Isovaleric acidemia. Clinical presentation of 6 cases". The Turkish Journal of Pediatrics. 40 (1): 111–119. PMID 9673537.
  • Grünert, Sarah C.; Wendel, Udo; Lindner, Martin; Leichsenring, Michael; Schwab, K. Otfried; Vockley, Jerry; Lehnert, Willy; Ensenauer, Regina (2012-01-01). "Clinical and neurocognitive outcome in symptomatic isovaleric acidemia". Orphanet Journal of Rare Diseases. 7: 9. doi:10.1186/1750-1172-7-9. ISSN 1750-1172. PMC 3292949. PMID 22277694.

ncbi.nlm.nih.gov

  • Lee, Yw; Lee, Dh; Vockley, J; Kim, Nd; Lee, Yk; Ki, Cs (September 2007). "Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia". Molecular Genetics and Metabolism. 92 (1–2): 71–7. doi:10.1016/j.ymgme.2007.05.003. PMC 4136440. PMID 17576084.
  • Grünert, Sarah C.; Wendel, Udo; Lindner, Martin; Leichsenring, Michael; Schwab, K. Otfried; Vockley, Jerry; Lehnert, Willy; Ensenauer, Regina (2012-01-01). "Clinical and neurocognitive outcome in symptomatic isovaleric acidemia". Orphanet Journal of Rare Diseases. 7: 9. doi:10.1186/1750-1172-7-9. ISSN 1750-1172. PMC 3292949. PMID 22277694.

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