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Volumn 13, Issue 5, 2010, Pages 408-411

Wilms tumor in a child with L-2-hydroxyglutaric aciduria

Author keywords

L 2 hydroxyglutaric aciduria; Wilms tumor

Indexed keywords

2 HYDROXYGLUTARIC ACID; DACTINOMYCIN; LEVO 2 HYDROXYGLUTARIC ACID; UNCLASSIFIED DRUG; VINCRISTINE; ANTINEOPLASTIC AGENT;

EID: 79952277962     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/09-12-0768-CR.1     Document Type: Article
Times cited : (24)

References (26)
  • 1
    • 0027255269 scopus 로고
    • L-2-hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase
    • Barth PG, Hoffmann GF, Jaeken J, et al. L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 1993;16:753-761.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 753-761
    • Barth, P.G.1    Hoffmann, G.F.2    Jaeken, J.3
  • 2
    • 57449117377 scopus 로고    scopus 로고
    • Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria
    • Yilmaz K. Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. Eur J Paediatr Neurol 2009;13:57-60.
    • (2009) Eur J Paediatr Neurol , vol.13 , pp. 57-60
    • Yilmaz, K.1
  • 3
    • 41349084192 scopus 로고    scopus 로고
    • A successfully treated adult patient with L-2-hydroxyglutaric aciduria
    • DOI 10.1212/01.wnl.0000287141.90944.95, PII 0000611420080325000014
    • Samuraki M, Komai K, Hasegawa Y, et al. A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology 2008;70:1051-1052. (Pubitemid 351451314)
    • (2008) Neurology , vol.70 , Issue.13 PART 1 , pp. 1051-1052
    • Samuraki, M.1    Komai, K.2    Hasegawa, Y.3    Kimura, M.4    Yamaguchi, S.5    Terada, N.6    Yamada, M.7
  • 4
    • 2442692808 scopus 로고    scopus 로고
    • L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?
    • Moroni I, Bugiani M, D'Incerti L, et al. L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition? Neurology 2004;62:1882-1884.
    • (2004) Neurology , vol.62 , pp. 1882-1884
    • Moroni, I.1    Bugiani, M.2    D'Incerti, L.3
  • 5
    • 33749266701 scopus 로고    scopus 로고
    • Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour
    • DOI 10.1136/jmg.2006.041723
    • Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet 2006;43:705-715. (Pubitemid 44483912)
    • (2006) Journal of Medical Genetics , vol.43 , Issue.9 , pp. 705-715
    • Scott, R.H.1    Stiller, C.A.2    Walker, L.3    Rahman, N.4
  • 6
    • 15944401335 scopus 로고    scopus 로고
    • High incidence of malformation syndromes in a series of 1,073 children with cancer
    • DOI 10.1002/ajmg.a.30603
    • Merks JH, Caron HN, Hennekam RC. High incidence of malformation syndromes in a series of 1,073 children with cancer. Am J Med Genet A 2005;134A:132-143. (Pubitemid 40446208)
    • (2005) American Journal of Medical Genetics , vol.134 A , Issue.2 , pp. 132-143
    • Merks, J.H.M.1    Caron, H.N.2    Hennekam, R.C.M.3
  • 8
    • 0037934652 scopus 로고    scopus 로고
    • Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria
    • Struys EA, Verhoeven NM, Roos B, Jakobs C. Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria. Clin Chem 2003;49:1133-1138.
    • (2003) Clin Chem , vol.49 , pp. 1133-1138
    • Struys, E.A.1    Verhoeven, N.M.2    Roos, B.3    Jakobs, C.4
  • 9
    • 3242798206 scopus 로고    scopus 로고
    • Measurement of urinary D- And L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetly-L-tartaric anhydride
    • DOI 10.1373/clinchem.2004.033399
    • Struys EA, Jansen EE, Verhoeven NM, Jakobs C. Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride. Clin Chem 2004;50:1391-1395. (Pubitemid 38970647)
    • (2004) Clinical Chemistry , vol.50 , Issue.8 , pp. 1391-1395
    • Struys, E.A.1    Jansen, E.E.W.2    Verhoeven, N.M.3    Jakobs, C.4
  • 13
    • 76949088401 scopus 로고    scopus 로고
    • Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria
    • Kranendijk M, Salomons GS, Gibson KM, et al. Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis 2009;32:713-719.
    • (2009) J Inherit Metab Dis , vol.32 , pp. 713-719
    • Kranendijk, M.1    Salomons, G.S.2    Gibson, K.M.3
  • 16
    • 0036058194 scopus 로고    scopus 로고
    • Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria
    • DOI 10.1159/000065097
    • Ozisik PA, Akalan N, Palaoglu S, Topcu M. Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria. Pediatr Neurosurg 2002;37:22-26. (Pubitemid 34920739)
    • (2002) Pediatric Neurosurgery , vol.37 , Issue.1 , pp. 22-26
    • Ozisik, P.A.1    Akalan, N.2    Palaoglu, S.3    Topcu, M.4
  • 17
    • 50649109180 scopus 로고    scopus 로고
    • L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: Neuroimaging findings
    • Haliloglu G, Jobard F, Oguz KK, et al. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. Neuropediatrics 2008;39:119-122.
    • (2008) Neuropediatrics , vol.39 , pp. 119-122
    • Haliloglu, G.1    Jobard, F.2    Oguz, K.K.3
  • 18
    • 57349166553 scopus 로고    scopus 로고
    • Hydroxyglutaric aciduria and malignant brain tumor: A case report and literature review
    • Aghili M, Zahedi F, Rafiee E. Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neurooncol 2009;91:233-236.
    • (2009) J Neurooncol , vol.91 , pp. 233-236
    • Aghili, M.1    Zahedi, F.2    Rafiee, E.3
  • 21
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000;26:268-270.
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Muller, U.2
  • 23
    • 18544365990 scopus 로고    scopus 로고
    • Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
    • Tomlinson IP, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002;30:406-410.
    • (2002) Nat Genet , vol.30 , pp. 406-410
    • Tomlinson, I.P.1    Alam, N.A.2    Rowan, A.J.3
  • 24
    • 52949127312 scopus 로고    scopus 로고
    • An integrated genomic analysis of human glioblastoma multiforme
    • Parsons DW, Jones S, Zhang X, et al. An integrated genomic analysis of human glioblastoma multiforme. Science 2008;321:1807-1812.
    • (2008) Science , vol.321 , pp. 1807-1812
    • Parsons, D.W.1    Jones, S.2    Zhang, X.3
  • 25
    • 60849115270 scopus 로고    scopus 로고
    • IDH1 and IDH2 mutations in gliomas
    • Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009;360:765-773.
    • (2009) N Engl J Med , vol.360 , pp. 765-773
    • Yan, H.1    Parsons, D.W.2    Jin, G.3
  • 26
    • 70149093912 scopus 로고    scopus 로고
    • Recurring mutations found by sequencing an acute myeloid leukemia genome
    • Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009;361:1058-1066.
    • (2009) N Engl J Med , vol.361 , pp. 1058-1066
    • Mardis, E.R.1    Ding, L.2    Dooling, D.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.