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Volumn 29, Issue 5, 2000, Pages 289-292

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis

Author keywords

D 2 hydroxyglutaricaciduria; Hydroxyglutaric aciduria; Ollier's disease; Skeletal dysplasia; Spondyloenchondromatosis

Indexed keywords

2 HYDROXYGLUTARIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

EID: 0034028108     PISSN: 03642348     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002560050611     Document Type: Article
Times cited : (27)

References (8)
  • 1
    • 0019152867 scopus 로고
    • D-2 hydroxyglutaric aciduria: Case report and biochemical studies
    • Chalmers RA, Lawson AM, Watts RWE, et al. D-2 hydroxyglutaric aciduria: case report and biochemical studies. J Inherited Metab Dis 1980; 3:11-15.
    • (1980) J Inherited Metab Dis , vol.3 , pp. 11-15
    • Chalmers, R.A.1    Lawson, A.M.2    Watts, R.W.E.3
  • 2
    • 0031027010 scopus 로고    scopus 로고
    • D-2-hydroxyglutaric aciduria : Hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscles
    • Baker NS, Sarnat HB, Jack RM, Patterson K, Shaw DW, Herndon SP. D-2-hydroxyglutaric aciduria : hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscles. J Clin Neurol 1997; 12:31-36.
    • (1997) J Clin Neurol , vol.12 , pp. 31-36
    • Baker, N.S.1    Sarnat, H.B.2    Jack, R.M.3    Patterson, K.4    Shaw, D.W.5    Herndon, S.P.6
  • 5
    • 0016870386 scopus 로고
    • Spondyloenchondrodysplasia. Enchondromatosis with severe platyspondyly in two brothers
    • Schorr S, Legum C, Ochshorn M. Spondyloenchondrodysplasia. Enchondromatosis with severe platyspondyly in two brothers. Radiology 1976; 118:133-139.
    • (1976) Radiology , vol.118 , pp. 133-139
    • Schorr, S.1    Legum, C.2    Ochshorn, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.