메뉴 건너뛰기




Volumn 60, Issue 10, 2003, Pages 1457-1462

Neuropsychiatric disturbances in presumed late-onset cobalamin C disease

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; COBAMAMIDE; HOMOCYSTEINE; MECOBALAMIN; METHYLMALONIC ACID;

EID: 0141889835     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.60.10.1457     Document Type: Article
Times cited : (77)

References (30)
  • 1
    • 0025452477 scopus 로고
    • Inherited disorders of vitamin B12 utilization
    • Rosenblatt DS, Cooper BA. Inherited disorders of vitamin B12 utilization. Bioessays. 1990;12:331-334.
    • (1990) Bioessays , vol.12 , pp. 331-334
    • Rosenblatt, D.S.1    Cooper, B.A.2
  • 2
    • 0032941095 scopus 로고    scopus 로고
    • Cobalamin and folate deficiency: Acquired and hereditary disorders in children
    • Rosenblatt DS, Whitehead VM. Cobalamin and folate deficiency: acquired and hereditary disorders in children. Semin Hematol. 1999;36:19-34.
    • (1999) Semin Hematol , vol.36 , pp. 19-34
    • Rosenblatt, D.S.1    Whitehead, V.M.2
  • 3
    • 0029132162 scopus 로고
    • Inherited errors of cobalamin metabolism and their management
    • Linnell JC, Bhatt HR. Inherited errors of cobalamin metabolism and their management. Baillieres Clin Haematol. 1995;8:567-601.
    • (1995) Baillieres Clin Haematol , vol.8 , pp. 567-601
    • Linnell, J.C.1    Bhatt, H.R.2
  • 4
    • 0033938389 scopus 로고    scopus 로고
    • Complementation studies in the cblA class of inborn error of cobalamin metabolism: Evidence for interallelic complementation and for a new complementation class (cbIH)
    • Watkins D, Matiaszuk N, Rosenblatt DS. Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cbIH). J Med Genet. 2000;37:510-513.
    • (2000) J Med Genet , vol.37 , pp. 510-513
    • Watkins, D.1    Matiaszuk, N.2    Rosenblatt, D.S.3
  • 7
    • 0021615191 scopus 로고
    • Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence: A treatable cause of dementia and myelopathy
    • Shinnar S, Singer HS. Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence: a treatable cause of dementia and myelopathy. N Engl J Med. 1984;311:451-454.
    • (1984) N Engl J Med , vol.311 , pp. 451-454
    • Shinnar, S.1    Singer, H.S.2
  • 8
    • 0030061817 scopus 로고    scopus 로고
    • Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset
    • Gold R, Bogdahn U, Kappos L, et al. Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset. J Neurol Neurosurg Psychiatry. 1996;60:107-108.
    • (1996) J Neurol Neurosurg Psychiatry , vol.60 , pp. 107-108
    • Gold, R.1    Bogdahn, U.2    Kappos, L.3
  • 9
    • 0032766463 scopus 로고    scopus 로고
    • Reversible dementia in an adolescent with cbIC disease: Clinical heterogeneity within the same family
    • Augoustides-Savvopoulou P, Mylonas I, Sewell AC, Rosenblatt DS. Reversible dementia in an adolescent with cbIC disease: clinical heterogeneity within the same family. J Inherit Metab Dis. 1999;22:756-758.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 756-758
    • Augoustides-Savvopoulou, P.1    Mylonas, I.2    Sewell, A.C.3    Rosenblatt, D.S.4
  • 10
    • 0035091599 scopus 로고    scopus 로고
    • Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency
    • Powers JM, Rosenblatt DS, Schmidt RE, et al. Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. Ann Neurol. 2001;49:396-400.
    • (2001) Ann Neurol , vol.49 , pp. 396-400
    • Powers, J.M.1    Rosenblatt, D.S.2    Schmidt, R.E.3
  • 11
    • 0035942363 scopus 로고    scopus 로고
    • Adult-onset combined methylmalonic aciduria and homocystinuria (cbIC)
    • Bodamer OA, Rosenblatt DS, Appel SH, Beaudet AL. Adult-onset combined methylmalonic aciduria and homocystinuria (cbIC). Neurology. 2001;56:1113.
    • (2001) Neurology , vol.56 , pp. 1113
    • Bodamer, O.A.1    Rosenblatt, D.S.2    Appel, S.H.3    Beaudet, A.L.4
  • 12
    • 0016712826 scopus 로고
    • Methylmalonicacidemia: Biochemical heterogeneity in defects of 5′-deoxyadenosylcobalamin synthesis
    • Mahoney MJ, Hart AC, Steen VD, Rosenberg LE. Methylmalonicacidemia: biochemical heterogeneity in defects of 5′-deoxyadenosylcobalamin synthesis. Proc Natl Acad Sci U S A. 1975;72:2799-2803.
    • (1975) Proc Natl Acad Sci U S A , vol.72 , pp. 2799-2803
    • Mahoney, M.J.1    Hart, A.C.2    Steen, V.D.3    Rosenberg, L.E.4
  • 13
    • 0018641347 scopus 로고
    • Cobalamin coenzyme synthesis in normal and mutant human fibroblasts: Evidence for a processing enzyme activity deficient in cbIC cells
    • Mellman I, Willard HF, Youngdahl-Turner P, Rosenberg LE. Cobalamin coenzyme synthesis in normal and mutant human fibroblasts: evidence for a processing enzyme activity deficient in cbIC cells. J Biol Chem. 1979;254:11847-11853.
    • (1979) J Biol Chem , vol.254 , pp. 11847-11853
    • Mellman, I.1    Willard, H.F.2    Youngdahl-Turner, P.3    Rosenberg, L.E.4
  • 14
    • 84963083532 scopus 로고
    • Subacute combined degeneration of the spinal cord
    • Russel JF, Batten FE, Collier J. Subacute combined degeneration of the spinal cord. Brain. 1900;23:39-110.
    • (1900) Brain , vol.23 , pp. 39-110
    • Russel, J.F.1    Batten, F.E.2    Collier, J.3
  • 16
    • 0031778476 scopus 로고    scopus 로고
    • Demyelination and inborn errors of the single carbon transfer pathway
    • Surtees R. Demyelination and inborn errors of the single carbon transfer pathway. Eur J Pediatr. 1998;157:S118-S121.
    • (1998) Eur J Pediatr , vol.157
    • Surtees, R.1
  • 17
    • 0027447346 scopus 로고
    • Pathogenesis of cobalamin neuropathy: Deficiency of nervous system S-adenosylmethionine?
    • Metz J. Pathogenesis of cobalamin neuropathy: deficiency of nervous system S-adenosylmethionine? Nutr Rev. 1993;51:12-15.
    • (1993) Nutr Rev , vol.51 , pp. 12-15
    • Metz, J.1
  • 18
    • 0026334413 scopus 로고
    • Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway
    • Surtees R, Leonard J, Austin S. Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. Lancet. 1991;338:1550-1554.
    • (1991) Lancet , vol.338 , pp. 1550-1554
    • Surtees, R.1    Leonard, J.2    Austin, S.3
  • 19
    • 0025301389 scopus 로고
    • Substrate specificity for myelin basic protein-specific protein methylase I
    • Ghosh SK, Syed SK, Jung S, Paik WK, Kim S. Substrate specificity for myelin basic protein-specific protein methylase I. Biochim Biophys Acta. 1990;1039:142-148.
    • (1990) Biochim Biophys Acta , vol.1039 , pp. 142-148
    • Ghosh, S.K.1    Syed, S.K.2    Jung, S.3    Paik, W.K.4    Kim, S.5
  • 20
    • 0022614891 scopus 로고
    • Pernicious anemia in the demented patient without anemia or macrocytosis: A case for early recognition
    • Gross JS, Weintraub NT, Neufeld RR, Libow LS. Pernicious anemia in the demented patient without anemia or macrocytosis: a case for early recognition. J Am Geriatr Soc. 1986;34:612-614.
    • (1986) J Am Geriatr Soc , vol.34 , pp. 612-614
    • Gross, J.S.1    Weintraub, N.T.2    Neufeld, R.R.3    Libow, L.S.4
  • 22
    • 0023946537 scopus 로고
    • Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis
    • Lindenbaum J, Healton EB, Savage DG, et al. Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. N Engl J Med. 1988;318:1720-1728.
    • (1988) N Engl J Med , vol.318 , pp. 1720-1728
    • Lindenbaum, J.1    Healton, E.B.2    Savage, D.G.3
  • 23
    • 0031003514 scopus 로고    scopus 로고
    • Is metabolic evidence for vitamin B-12 and folate deficiency more frequent in elderly patients with Alzheimer's disease?
    • Joosten E, Lesaffre E, Riezler R, et al. Is metabolic evidence for vitamin B-12 and folate deficiency more frequent in elderly patients with Alzheimer's disease? J Gerontol A Biol Sci Med Sci. 1997;52:M76-M79.
    • (1997) J Gerontol A Biol Sci Med Sci , vol.52
    • Joosten, E.1    Lesaffre, E.2    Riezler, R.3
  • 24
    • 0032937407 scopus 로고    scopus 로고
    • Modern clinical testing strategies in cobalamin and folate deficiency
    • Zittoun J, Zittoun R. Modern clinical testing strategies in cobalamin and folate deficiency. Semin Hematol. 1999;36:35-46.
    • (1999) Semin Hematol , vol.36 , pp. 35-46
    • Zittoun, J.1    Zittoun, R.2
  • 25
    • 0024994773 scopus 로고
    • Clinical spectrum and diagnosis of cobalamin deficiency
    • Stabler SP, Allen RH, Savage DG, Lindenbaum J. Clinical spectrum and diagnosis of cobalamin deficiency. Blood. 1990;76:871-881.
    • (1990) Blood , vol.76 , pp. 871-881
    • Stabler, S.P.1    Allen, R.H.2    Savage, D.G.3    Lindenbaum, J.4
  • 26
    • 0016670730 scopus 로고
    • Folate-responsive homocystinuria and "schizophrenia": A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity
    • Freeman JM, Finkelstein JD, Mudd SH. Folate-responsive homocystinuria and "schizophrenia": a defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. N Engl J Med. 1975;292:491-496.
    • (1975) N Engl J Med , vol.292 , pp. 491-496
    • Freeman, J.M.1    Finkelstein, J.D.2    Mudd, S.H.3
  • 27
    • 0028236161 scopus 로고
    • Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult
    • Pasquier F, Lebert F, Petit H, Zittoun J, Marquet J. Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult. J Neurol Neurosurg Psychiatry. 1994;57:765-766.
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 765-766
    • Pasquier, F.1    Lebert, F.2    Petit, H.3    Zittoun, J.4    Marquet, J.5
  • 28
    • 0023909199 scopus 로고
    • Hereditary defect of cobalamin metabolism (cbIG mutation) presenting as a neurologic disorder in adulthood
    • Carmel R, Watkins D, Goodman SL, Rosenblatt DS. Hereditary defect of cobalamin metabolism (cbIG mutation) presenting as a neurologic disorder in adulthood. N Engl J Med. 1988;318:1738-1741.
    • (1988) N Engl J Med , vol.318 , pp. 1738-1741
    • Carmel, R.1    Watkins, D.2    Goodman, S.L.3    Rosenblatt, D.S.4
  • 29
    • 0014545138 scopus 로고
    • Vascular pathology of homocysteinemia: Implications for the pathogenesis of arteriosclerosis
    • McCully KS. Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am J Pathol. 1969;56:111-128.
    • (1969) Am J Pathol , vol.56 , pp. 111-128
    • McCully, K.S.1
  • 30
    • 0025873535 scopus 로고
    • Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings
    • Visy JM, Le Coz P, Chadefaux B, et al. Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings. Neurology. 1991;41:1313-1315.
    • (1991) Neurology , vol.41 , pp. 1313-1315
    • Visy, J.M.1    Le Coz, P.2    Chadefaux, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.