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Volumn 32, Issue 6, 2009, Pages 728-731

Hydroxocobalamin dose escalation improves metabolic control in cblC

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CARNITINE; FOLIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; METHYLMALONIC ACID;

EID: 76949087428     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1257-y     Document Type: Article
Times cited : (53)

References (21)
  • 1
    • 0027515431 scopus 로고
    • Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism
    • DOI 10.1016/0026-0495(93)90198-W
    • RH Allen SP Stabler J Lindenbaum 1993 Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism Metabolism 42 1448 1460 10.1016/0026- 0495(93)90198-W 1:CAS:528:DyaK2cXntlyj 7694037 (Pubitemid 23335879)
    • (1993) Metabolism: Clinical and Experimental , vol.42 , Issue.11 , pp. 1448-1460
    • Allen, R.H.1    Stabler, S.P.2    Lindenbaum, J.3
  • 2
    • 0033123412 scopus 로고    scopus 로고
    • Long-term outcome in treated combined methylmalonic acidemia and homocystinemia
    • 1:STN:280:DC%2BD3M3hsFyhsQ%3D%3D 11258350
    • HC Andersson M Marble E Shapira 1999 Long-term outcome in treated combined methylmalonic acidemia and homocystinemia Genet Med. 1 146 150 1:STN:280:DC%2BD3M3hsFyhsQ%3D%3D 11258350
    • (1999) Genet Med. , vol.1 , pp. 146-150
    • Andersson, H.C.1    Marble, M.2    Shapira, E.3
  • 3
    • 0023830785 scopus 로고
    • Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria
    • 10.1016/S0022-3476(88)80114-8 1:STN:280:DyaL1c%2FptVWhuw%3D%3D 3257264
    • DW Bartholomew ML Batshaw RH Allen, et al. 1988 Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria J Pediatr 112 32 39 10.1016/S0022-3476(88)80114-8 1:STN:280:DyaL1c%2FptVWhuw%3D%3D 3257264
    • (1988) J Pediatr , vol.112 , pp. 32-39
    • Bartholomew, D.W.1    Batshaw, M.L.2    Allen, R.H.3
  • 5
    • 4644362538 scopus 로고    scopus 로고
    • Expanded newborn screening using tandem mass spectrometry
    • 14626484
    • MK Fearing HL Levy 2003 Expanded newborn screening using tandem mass spectrometry Adv Pediatr 50 81 111 14626484
    • (2003) Adv Pediatr , vol.50 , pp. 81-111
    • Fearing, M.K.1    Levy, H.L.2
  • 6
    • 26844505526 scopus 로고    scopus 로고
    • Prenatal and postnatal treatment in cobalamin C defect
    • DOI 10.1016/j.jpeds.2005.04.040, PII S0022347605003495
    • M Huemer B Simma B Fowler T Sourmala OA Bodamer JO Sass 2005 Prenatal and postnatal treatment in cobalamin C defect J Pediatr 147 469 472 10.1016/j.jpeds.2005.04.040 1:CAS:528:DC%2BD2MXhtFShs7jJ 16227032 (Pubitemid 41446540)
    • (2005) Journal of Pediatrics , vol.147 , Issue.4 , pp. 469-472
    • Huemer, M.1    Simma, B.2    Fowler, B.3    Suormala, T.4    Bodamer, O.A.5    Sass, J.O.6
  • 8
    • 67649662233 scopus 로고    scopus 로고
    • Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
    • 10.1002/humu.21001 1:CAS:528:DC%2BD1MXptlSjt7k%3D 19370762
    • JP Lerner-Ellis N Anastasio J Liu, et al. 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations Hum Mutat 30 1072 1081 10.1002/humu.21001 1:CAS:528:DC%2BD1MXptlSjt7k%3D 19370762
    • (2009) Hum Mutat , vol.30 , pp. 1072-1081
    • Lerner-Ellis, J.P.1    Anastasio, N.2    Liu, J.3
  • 9
    • 0018641347 scopus 로고
    • Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells
    • 1:CAS:528:DyaL3cXkt1an 500677
    • I Mellman HF Willard P Youngdahl-Turner LE Rosenberg 1979 Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells J Biol Chem 254 11847 11853 1:CAS:528:DyaL3cXkt1an 500677
    • (1979) J Biol Chem , vol.254 , pp. 11847-11853
    • Mellman, I.1    Willard, H.F.2    Youngdahl-Turner, P.3    Rosenberg, L.E.4
  • 10
    • 0022652473 scopus 로고
    • Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria
    • 10.1016/S0022-3476(86)80882-4 1:STN:280:DyaL287ktlajug%3D%3D 3950820
    • GA Mitchell D Watkins SB Melancon, et al. 1986 Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria J Pediatr 108 410 415 10.1016/S0022-3476(86)80882-4 1:STN:280:DyaL287ktlajug%3D%3D 3950820
    • (1986) J Pediatr , vol.108 , pp. 410-415
    • Mitchell, G.A.1    Watkins, D.2    Melancon, S.B.3
  • 11
    • 33746280280 scopus 로고    scopus 로고
    • Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype-genotype correlations and ethnic-specific observations
    • DOI 10.1016/j.ymgme.2006.04.001, PII S1096719206001363
    • CF Morel JP Lerner-Ellis DS Rosenblatt 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations Mol Genet Metab 88 315 321 10.1016/j.ymgme.2006.04. 001 1:CAS:528:DC%2BD28Xns1KjsrY%3D 16714133 (Pubitemid 44107770)
    • (2006) Molecular Genetics and Metabolism , vol.88 , Issue.4 , pp. 315-321
    • Morel, C.F.1    Lerner-Ellis, J.P.2    Rosenblatt, D.S.3
  • 12
    • 40849138093 scopus 로고    scopus 로고
    • Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
    • 10.1016/j.ymgme.2007.11.005 1:CAS:528:DC%2BD1cXjtl2ltL8%3D 18164228
    • C Nogueira C Aiello R Cerone, et al. 2008 Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type Mol Genet Metab 93 475 480 10.1016/j.ymgme.2007.11.005 1:CAS:528:DC%2BD1cXjtl2ltL8%3D 18164228
    • (2008) Mol Genet Metab , vol.93 , pp. 475-480
    • Nogueira, C.1    Aiello, C.2    Cerone, R.3
  • 13
    • 0031779446 scopus 로고    scopus 로고
    • Remethylation defects: Guidelines for clinical diagnosis and treatment
    • 10.1007/PL00014307 9587031
    • H Ogier de Baulny M Gerard JM Saudubray J Zittoun 1998 Remethylation defects: guidelines for clinical diagnosis and treatment Eur J Pediatr 157 Suppl 2 S77 83 10.1007/PL00014307 9587031
    • (1998) Eur J Pediatr , vol.157 , Issue.SUPPL 2 , pp. 77-83
    • Ogier De Baulny, H.1    Gerard, M.2    Saudubray, J.M.3    Zittoun, J.4
  • 14
    • 0033739785 scopus 로고    scopus 로고
    • Optic atrophy in association with cobalamin C (cblC) disease
    • 1:STN:280:DC%2BD3M%2FktVKisA%3D%3D 11035547
    • N Patton S Beatty IC Lloyd JE Wraith 2000 Optic atrophy in association with cobalamin C (cblC) disease Ophthalmic Genet 21 151 154 1:STN:280: DC%2BD3M%2FktVKisA%3D%3D 11035547
    • (2000) Ophthalmic Genet , vol.21 , pp. 151-154
    • Patton, N.1    Beatty, S.2    Lloyd, I.C.3    Wraith, J.E.4
  • 16
    • 42949135857 scopus 로고    scopus 로고
    • Role of hydroxocobalamin in acute cyanide poisoning
    • DOI 10.1345/aph.1K559
    • G Shepherd LI Velez 2008 Role of hydroxocobalamin in acute cyanide poisoning Ann Pharmacother 42 661 669 10.1345/aph.1K559 1:CAS:528: DC%2BD1cXmt1ant7Y%3D 18397973 (Pubitemid 351619937)
    • (2008) Annals of Pharmacotherapy , vol.42 , Issue.5 , pp. 661-669
    • Shepherd, G.1    Velez, L.I.2
  • 17
    • 0036557961 scopus 로고    scopus 로고
    • Practical management of combined methylmalonicaciduria and homocystinuria
    • 10.1177/088307380201700508 12150582
    • DL Smith OA Bodamer 2002 Practical management of combined methylmalonicaciduria and homocystinuria J Child Neurol 17 353 356 10.1177/088307380201700508 12150582
    • (2002) J Child Neurol , vol.17 , pp. 353-356
    • Smith, D.L.1    Bodamer, O.A.2
  • 19
    • 0027160548 scopus 로고
    • Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency
    • 1:STN:280:DyaK3s3otlKqsQ%3D%3D 8507876
    • SP Stabler J Lindenbaum DG Savage RH Allen 1993 Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency Blood 81 3404 3413 1:STN:280:DyaK3s3otlKqsQ%3D%3D 8507876
    • (1993) Blood , vol.81 , pp. 3404-3413
    • Stabler, S.P.1    Lindenbaum, J.2    Savage, D.G.3    Allen, R.H.4
  • 20
    • 33749009017 scopus 로고    scopus 로고
    • Safety of hydroxocobalamin in healthy volunteers in a randomized, placebo-controlled study
    • 1:CAS:528:DC%2BD28XhtVWrtLvL
    • W Uhl A Nolting G Golor KL Rost A Kovar 2006 Safety of hydroxocobalamin in healthy volunteers in a randomized, placebo-controlled study Clin Toxicol (Phila) 44 Suppl 1 17 28 1:CAS:528:DC%2BD28XhtVWrtLvL
    • (2006) Clin Toxicol (Phila) , vol.44 , Issue.SUPPL 1 , pp. 17-28
    • Uhl, W.1    Nolting, A.2    Golor, G.3    Rost, K.L.4    Kovar, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.