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Turkish Journal of Pediatrics
Volumn 42, Issue 4, 2000, Pages 319-321
Triosephosphate isomerase deficiency with elevated sweat chloride test: Report of a case
Author keywords

Elevated sweat chloride; Triosephosphate isomerase deficiency
Indexed keywords

CHLORIDE; TRIOSEPHOSPHATE ISOMERASE;
EID: 0034303543     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)
References (8)
  • 1
    • 0022376979 scopus 로고
    • Hereditary triose-phosphate isomerase deficiency: Seven new homozygous case
    • Rosa R, Prehu MO, Calvin MC, Badoual J, Alix D, Girod R. Hereditary triose-phosphate isomerase deficiency: seven new homozygous case. Hum Genet 1985; 71: 235-240.
    • (1985) Hum Genet , vol.71 , pp. 235-240
    • Rosa, R.1    Prehu, M.O.2    Calvin, M.C.3    Badoual, J.4    Alix, D.5    Girod, R.6
  • 2
    • 0019972167 scopus 로고
    • Triosephosphate isomerase deficiency. A case report with neuropathological findings
    • Clay SA, Shore NA, Landing BH. Triosephosphate isomerase deficiency. A case report with neuropathological findings. Am J Dis Child 1982; 136: 800-802.
    • (1982) Am J Dis Child , vol.136 , pp. 800-802
    • Clay, S.A.1    Shore, N.A.2    Landing, B.H.3
  • 3
    • 0018249672 scopus 로고
    • The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes
    • Rosa R, Prehu MO, Beuzard Y, Rosa J. The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes. J Clin Invest 1978; 62: 907-915.
    • (1978) J Clin Invest , vol.62 , pp. 907-915
    • Rosa, R.1    Prehu, M.O.2    Beuzard, Y.3    Rosa, J.4
  • 4
    • 0031016388 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis
    • Stern RC. The diagnosis of cystic fibrosis. New Engl J Med 1997; 336: 487-491.
    • (1997) New Engl J Med , vol.336 , pp. 487-491
    • Stern, R.C.1
  • 5
    • 0031687701 scopus 로고    scopus 로고
    • What is a cystic fibrosis diagnosis?
    • v. Review
    • Rosenstein BJ. What is a cystic fibrosis diagnosis? Clin Chest Med 1998; 19: 423-441, v. Review.
    • (1998) Clin Chest Med , vol.19 , pp. 423-441
    • Rosenstein, B.J.1
  • 6
    • 0029025722 scopus 로고
    • Study of 12 mutations in Turkish cystic fibrosis patients
    • Yilmaz E, Erdem H, Özgüç M, et al. Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered 1995; 45: 175-177.
    • (1995) Hum Hered , vol.45 , pp. 175-177
    • Yilmaz, E.1    Erdem, H.2    Özgüç, M.3
  • 7
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    • The prevalence of factor V Leiden (1691 G->A) mutation in Turkey
    • Gürgey A, Mesci L. The prevalence of factor V Leiden (1691 G->A) mutation in Turkey. Turk J Pediatr 1997; 39: 313-315.
    • (1997) Turk J Pediatr , vol.39 , pp. 313-315
    • Gürgey, A.1    Mesci, L.2
  • 8
    • 0032942757 scopus 로고    scopus 로고
    • Clinical menifestations in thrombotic children with factor V Leiden mutation
    • Gürgey A. Clinical menifestations in thrombotic children with factor V Leiden mutation. Pediatr Hematol Oncol 1999; 16: 233-237.
    • (1999) Pediatr Hematol Oncol , vol.16 , pp. 233-237
    • Gürgey, A.1

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.