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Volumn 82, Issue 1, 2014, Pages

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

Author keywords

[No Author keywords available]

Indexed keywords

ACICLOVIR; ACYL COENZYME A DEHYDROGENASE; BICARBONATE; FUROSEMIDE; GLUCOSE; MESSENGER RNA;

EID: 84892187567     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000438217.31437.72     Document Type: Article
Times cited : (11)

References (10)
  • 1
    • 33750949788 scopus 로고    scopus 로고
    • Acute pediatric rhabdomyolysis: Causes and rates of renal failure
    • DOI 10.1542/peds.2006-1352
    • Mannix R, Tan ML, Wright R, et al. Acute pediatric rhabdomyolysis: causes and rates of renal failure. Pediatrics 2006;118:2119-2125. (Pubitemid 46393696)
    • (2006) Pediatrics , vol.118 , Issue.5 , pp. 2119-2125
    • Mannix, R.1    Tan, M.L.2    Wright, R.3    Baskin, M.4
  • 2
    • 77957593707 scopus 로고    scopus 로고
    • Newborn screening for disorders of fatty-acid oxidation: Experience and recommendations from an expert meeting
    • Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis 2010;33:521-526.
    • (2010) J Inherit Metab Dis , vol.33 , pp. 521-526
    • Lindner, M.1    Hoffmann, G.F.2    Matern, D.3
  • 3
    • 82255179325 scopus 로고    scopus 로고
    • A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence
    • Yagi M, Lee T, Awano H, et al. A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence. Mol Genet Metab 2011;104:556-559.
    • (2011) Mol Genet Metab , vol.104 , pp. 556-559
    • Yagi, M.1    Lee, T.2    Awano, H.3
  • 4
    • 0037903252 scopus 로고    scopus 로고
    • Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to -subunit mutations
    • DOI 10.1002/humu.10211
    • Spiekerkoetter U, Sun B, Khuchua Z, et al. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 2003;21:598-607. (Pubitemid 36667350)
    • (2003) Human Mutation , vol.21 , Issue.6 , pp. 598-607
    • Spiekerkoetter, U.1    Sun, B.2    Khuchua, Z.3    Bennett, M.J.4    Strauss, A.W.5
  • 5
    • 77957560919 scopus 로고    scopus 로고
    • Mitochondrial fatty acid oxidation disorders: Clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
    • Spiekerkoetter U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis 2010;33:527-532.
    • (2010) J Inherit Metab Dis , vol.33 , pp. 527-532
    • Spiekerkoetter, U.1
  • 9
    • 33747011078 scopus 로고    scopus 로고
    • Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency
    • DOI 10.1016/j.ymgme.2006.06.004, PII S1096719206002174
    • Gillingham MB, Scott B, Elliott D, et al. Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab 2006;89:58-63. (Pubitemid 44205484)
    • (2006) Molecular Genetics and Metabolism , vol.89 , Issue.1-2 , pp. 58-63
    • Gillingham, M.B.1    Scott, B.2    Elliott, D.3    Harding, C.O.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.