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NTIS 바로가기대한유전성대사질환학회지 = Journal of the Korean Society of Inherited Metabolic Disease, v.21 no.1, 2021년, pp.22 - 27
손지수 (울산대학교 의과대학 서울아산병원 소아청소년과) , 최윤하 (울산대학교 의과대학 서울아산병원 소아청소년과) , 서고훈 ((주)쓰리빌리언) , 강민지 (서울아산병원 의생명연구소 유전체단) , 이범희 (울산대학교 의과대학 서울아산병원 소아청소년과)
Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionyl-CoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and s...
Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nelson Textbook of Pediatrics. 21th ed. : Elsevier 2020:695-739.
Rodriguez-Gonzalez M, Perez-Reviriego AA, Castellano-Martinez A, Cascales-Poyatos HM. Cardiac Complications in Patients with Propionic Acidemia. J Rare Dis Res Treat 2018;3:13-21.
Shchelochkov OA, Carrillo N, Venditti C, Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews ® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
Laemmle A, Balmer C, Doell C, Sass J, Haberle J, Baumgartner M. Propionic academia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur J Pediatr 2014;173:971-4.
Baumgartner MR, Horster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 2014;9:130.
Romano S, Valayannopoulos V, Touati G, Jais JP, Rabier D, de Keyzer Y, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 2010;156:128-34.
Mardach R, Verity MA, Cederbaum SD. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab 2005;85:286-90.
Schreiber J, Chapman KA, Summar ML, Mew NA, Sutton VR, MacLeod E, et al. Neurologic considerations in propionic academia. Mol Genet Metab 2012;105:10-5.
Almuqbil M, Chinsky JM, Srivastava S. Metabolic strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Child Neurol Open 2019;6:1-9.
Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, et al. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet 2017;25:1195-201.
Lee TM, Addonizio LJ, Barshop BA, Chung WK. Unusual presentation of propionic acidemia as isolated cardiomyopathy. J Inherit Metab Dis 2009;32:97-101.
Weintraub RG, Semsarian C, Macdonald P. Dilated cardiomyopathy. Lancet 2017;390:400-14.
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