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Volumn 112, Issue 1, 1988, Pages 32-39

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CARNITINE; FOLINIC ACID; METHYLMALONIC ACID;

EID: 0023830785     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(88)80114-8     Document Type: Article
Times cited : (65)

References (32)
  • 3
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    • Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria
    • (1986) J Pediatr , vol.108 , pp. 410-415
    • Mitchell1    Watkins2    Melancon3
  • 4
    • 0018834062 scopus 로고
    • Congenital methylmalonic aciduria: homocystinuria with megaloblastic anemia. Observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test
    • (1980) Blood , vol.55 , pp. 570-579
    • Carmel1    Bedros2    Mace3    Goodman4
  • 13
    • 0017821131 scopus 로고
    • Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant
    • (1978) Am J Hum Genet , vol.30 , pp. 1-13
    • Willard1    Mellman2    Rosenberg3
  • 14
    • 0014748026 scopus 로고
    • 12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria
    • (1970) Am J Med , vol.48 , pp. 390-397
    • Levy1    Mudd2    Schulman3    Dreyfus4    Abeles5
  • 19
    • 0021028984 scopus 로고
    • Abnormal cobalamin metabolism in a megaloblastic child with homocystinuria, cystathioninuria and methylmalonic aciduria
    • (1983) J Inher Metab Dis , vol.6 , pp. 137-139
    • Linnell1    Miranda2    Bhatt3
  • 21
    • 0021615191 scopus 로고
    • Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence: a treatable cause of dementia and myelopathy
    • (1984) N Engl J Med , vol.311 , pp. 451
    • Shinnar1    Singer2
  • 22
    • 0016169197 scopus 로고
    • 12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin: pathological and neurochemical findings in one case
    • (1974) J Neurol Sci , vol.23 , pp. 117-128
    • Dayan1    Ramsey2
  • 25
    • 50549211040 scopus 로고
    • Comparison of hydroxocobalamin and cyanocobalamin in the treatment of pernicious anemia
    • (1965) Lancet , vol.2 , pp. 1305
    • Chalmers1    Shinton2
  • 26
  • 30
    • 0021226458 scopus 로고
    • l-Carnitine insufficiency in disorders of organic acid metabolism: response to l-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria
    • (1984) J Inher Metab Dis , vol.7 , pp. 109-110
    • Chalmers1    Stacey2    Tracey3
  • 31
    • 84919105535 scopus 로고
    • 12 in congenital methylmalonic aciduria and homocystinuria: results of deoxyuridine suppression test [Abstract]
    • (1986) Pediatr Res , vol.20 , pp. 270A
    • Ravindranath1    Buck2    Krieger3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.