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Volumn 22, Issue 12, 2007, Pages 1405-1407

Subacute presentation of propionic acidemia

Author keywords

3 OH propionic acid; Gastroenteritis; Propionic acidemia

Indexed keywords

AMINO ACID; BIOTIN; CARNITINE; ISOLEUCINE; METHIONINE; PROPIONIC ACID; PROPIONYL COENZYME A CARBOXYLASE; THREONINE;

EID: 36749042680     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807307080     Document Type: Article
Times cited : (10)

References (10)
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    • Effect of PCCB gene mutation on the heteromeric and homomeric assembly of propionyl CoA carboxylase
    • Muro S., Perez B., Desviat LR, et al. Effect of PCCB gene mutation on the heteromeric and homomeric assembly of propionyl CoA carboxylase. Mol Genet Metab. 2001; 4 (suppl): S476-S483.
    • (2001) Mol Genet Metab. , vol.4 , Issue.SUPPL.
    • Muro, S.1    Perez, B.2    Desviat, L.R.3
  • 2
    • 0028592520 scopus 로고
    • Unusual presentations of propionic acidaemia
    • Ozand PT, Rashed M., Gascon CG, et al. Unusual presentations of propionic acidaemia. Brain Dev. 1994;16(suppl):S46-S57.
    • (1994) Brain Dev. , vol.16 , Issue.SUPPL.
    • Ozand, P.T.1    Rashed, M.2    Gascon, C.G.3
  • 3
    • 3042733724 scopus 로고    scopus 로고
    • Propionic acidaemia: Unusual course with late onset and fatal outcome
    • Lucke T., Perez-Cerda C., Baumgartner M., et al. Propionic acidaemia: unusual course with late onset and fatal outcome. Metabolism. 2004;6(suppl):S809-S810.
    • (2004) Metabolism , vol.6 , Issue.SUPPL.
    • Lucke, T.1    Perez-Cerda, C.2    Baumgartner, M.3
  • 4
    • 0042266320 scopus 로고    scopus 로고
    • Propionic acidaemia: A neuropathology case report and review of prior cases
    • Feliz B., Witt DR, Harris BT Propionic acidaemia: A neuropathology case report and review of prior cases. Arch Pathol Lab Med. 2003;8(suppl):S325-S328.
    • (2003) Arch Pathol Lab Med. , vol.8 , Issue.SUPPL.
    • Feliz, B.1    Witt, D.R.2    Harris, B.T.3
  • 5
    • 0032888457 scopus 로고    scopus 로고
    • Neurologic nonmetabolic presentation of propionic acidaemia
    • Nyhan WL, Bay C., Beyer EW, et al. Neurologic nonmetabolic presentation of propionic acidaemia. Arch Neurol. 1999;56:1143-1147.
    • (1999) Arch Neurol. , vol.56 , pp. 1143-1147
    • Nyhan, W.L.1    Bay, C.2    Beyer, E.W.3
  • 6
    • 0028859175 scopus 로고
    • Neuropathology of propionic acidaemia: A report of two patients with basal ganglia lesions
    • Hamilton RL, Haas RH, Nyhan WL, et al. Neuropathology of propionic acidaemia: A report of two patients with basal ganglia lesions. J Child Neurol. 1995;1(suppl):S25-S30.
    • (1995) J Child Neurol. , vol.1 , Issue.SUPPL.
    • Hamilton, R.L.1    Haas, R.H.2    Nyhan, W.L.3
  • 8
    • 15144347965 scopus 로고    scopus 로고
    • An unusual late-onset case of propionic acidaemia: Biochemical investigations, neuroradiological findings and mutations analysis
    • Perez-Cerda C., Merinero B., Marti M., et al. An unusual late-onset case of propionic acidaemia: Biochemical investigations, neuroradiological findings and mutations analysis. Eur J Pediatr. 1998;157:50-52.
    • (1998) Eur J Pediatr. , vol.157 , pp. 50-52
    • Perez-Cerda, C.1    Merinero, B.2    Marti, M.3
  • 9
    • 0011795372 scopus 로고    scopus 로고
    • Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children
    • Sanseverino MT, Wajner M., Giugliani R. Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children. J Pediatr. 2000;5(suppl):S375-S382.
    • (2000) J Pediatr. , vol.5 , Issue.SUPPL.
    • Sanseverino, M.T.1    Wajner, M.2    Giugliani, R.3
  • 10
    • 10444223237 scopus 로고    scopus 로고
    • Propionic acidaemia revisited: A workshop report
    • Sass JO, Hofmann M., Skladal D., et al. Propionic acidaemia revisited: A workshop report. Clin Pediatr (Phila). 2004;9(suppl):S837-S843.
    • (2004) Clin Pediatr (Phila) , vol.9 , Issue.SUPPL.
    • Sass, J.O.1    Hofmann, M.2    Skladal, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.