메뉴 건너뛰기




Volumn 86, Issue 10, 1997, Pages 1144-1147

Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life

Author keywords

Glutaric aciduria type I; Glutaryl coenzyme A dehydrogenase deficiency; Nephrotic syndrome

Indexed keywords

GLUTARIC ACID;

EID: 0030873566     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.1997.tb14827.x     Document Type: Article
Times cited : (20)

References (13)
  • 1
    • 0000389537 scopus 로고
    • Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • Goodman SI, Frerman FE. Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill 1995: 1451-60
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 1451-1460
    • Goodman, S.I.1    Frerman, F.E.2
  • 2
    • 0026074570 scopus 로고
    • Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds
    • Haworth JC, Booth FA, Chudley AE, deGroot GW, Dilling LA, Goodman ST, et al. Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991; 118: 52-8
    • (1991) J Pediatr , vol.118 , pp. 52-58
    • Haworth, J.C.1    Booth, F.A.2    Chudley, A.E.3    Degroot, G.W.4    Dilling, L.A.5    Goodman, S.T.6
  • 4
    • 8944233364 scopus 로고    scopus 로고
    • Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency
    • Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, Klerk de JBC, Lehnert W, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996; 27: 115-23
    • (1996) Neuropediatrics , vol.27 , pp. 115-123
    • Hoffmann, G.F.1    Athanassopoulos, S.2    Burlina, A.B.3    Duran, M.4    De Klerk, J.B.C.5    Lehnert, W.6
  • 5
    • 0024400683 scopus 로고
    • Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds
    • Amir N, Elpeleg ON, Shalev RS, Christensen E. Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds. J Pediatr 1989; 114: 983-9
    • (1989) J Pediatr , vol.114 , pp. 983-989
    • Amir, N.1    Elpeleg, O.N.2    Shalev, R.S.3    Christensen, E.4
  • 6
    • 0027201852 scopus 로고
    • Nephrotic syndrome in the 1st year of life
    • Habib R. Nephrotic syndrome in the 1st year of life. Pediatr Nephrol 1993; 7: 347-53
    • (1993) Pediatr Nephrol , vol.7 , pp. 347-353
    • Habib, R.1
  • 8
    • 0028863565 scopus 로고
    • Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1
    • Männikkö M, Kestilä M, Holmberg C, Norio R, Ryynänen M, Olsen A, et al. Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet 1995; 57: 1377-83
    • (1995) Am J Hum Genet , vol.57 , pp. 1377-1383
    • Männikkö, M.1    Kestilä, M.2    Holmberg, C.3    Norio, R.4    Ryynänen, M.5    Olsen, A.6
  • 9
    • 0028239839 scopus 로고
    • Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis
    • Greenberg CR, Duncan AM, Gregory CA, Singal R, Goodman SI. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics 1994; 21: 289-90
    • (1994) Genomics , vol.21 , pp. 289-290
    • Greenberg, C.R.1    Duncan, A.M.2    Gregory, C.A.3    Singal, R.4    Goodman, S.I.5
  • 10
    • 0002668646 scopus 로고
    • Nephrotic syndrome in the first year of life
    • Tisher CC, Brenner BM, editors. Philadelphia: J.B. Lippincott Company
    • Sibley RK, Striegel J, Melvin T. Nephrotic syndrome in the first year of life. In: Tisher CC, Brenner BM, editors. Renal pathology with clinical and functional correlations. Philadelphia: J.B. Lippincott Company, 1989: 1214-32
    • (1989) Renal Pathology with Clinical and Functional Correlations. , pp. 1214-1232
    • Sibley, R.K.1    Striegel, J.2    Melvin, T.3
  • 11
    • 0030068656 scopus 로고    scopus 로고
    • Diffuse mesangial sclerosis: A unique type of congenital and infantile nephrotic syndrome
    • Ozen S, Tinaztepe K. Diffuse mesangial sclerosis: a unique type of congenital and infantile nephrotic syndrome. Nephron 1996; 72: 288-91
    • (1996) Nephron , vol.72 , pp. 288-291
    • Ozen, S.1    Tinaztepe, K.2
  • 12
    • 0018841459 scopus 로고
    • Rapidly progressive glomerulonephritis in children: A report of thirteen cases and a review of the literature
    • Cunningham RJ, Gilfoil M, Cavallo T, Brouhard BH, Travis LB, Berger M, et al. Rapidly progressive glomerulonephritis in children: A report of thirteen cases and a review of the literature. Pediatr Res 1980; 14: 128-32
    • (1980) Pediatr Res , vol.14 , pp. 128-132
    • Cunningham, R.J.1    Gilfoil, M.2    Cavallo, T.3    Brouhard, B.H.4    Travis, L.B.5    Berger, M.6
  • 13
    • 0021984284 scopus 로고
    • A report of the Southwest Pediatric Nephrology Study Group
    • A clinico-pathologic study of crescentic glomerulonephritis in 50 children. A report of the Southwest Pediatric Nephrology Study Group. Kidney Int 1985; 27: 450-8
    • (1985) Kidney Int , vol.27 , pp. 450-458


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.