메뉴 건너뛰기




Volumn 37, Issue 12 SUPPL., 2008, Pages 71-73

Disorders of the carnitine cycle and detection by newborn screening

Author keywords

Carnitine palmitoyl; Carnitine transporter; Transferase; Translocase

Indexed keywords

CARNITINE; CARNITINE PALMITOYLTRANSFERASE;

EID: 77952467336     PISSN: 03044602     EISSN: 29724066     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (13)
  • 1
    • 0031868466 scopus 로고    scopus 로고
    • Genetic disorders of carnitine metabolism and their nutritional management
    • Kerner J, Hoppel C. Genetic disorders of carnitine metabolism and their nutritional management. Annu Rev Nutr 1998;18:179-206.
    • (1998) Annu Rev Nutr , vol.18 , pp. 179-206
    • Kerner, J.1    Hoppel, C.2
  • 2
    • 84895303529 scopus 로고    scopus 로고
    • Disorders of mitochondrial fatty acid oxidation and related metabolic pathways
    • In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, editors. 4th ed. Heidelberg: Springer
    • Stanley CA, Bennett MJ, Mayatepek E. Disorders of mitochondrial fatty acid oxidation and related metabolic pathways. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, editors. Inborn Metabolic Diseases. 4th ed. Heidelberg: Springer, 2006:175-90.
    • (2006) Inborn Metabolic Diseases. , pp. 175-190
    • Stanley, C.A.1    Bennett, M.J.2    Mayatepek, E.3
  • 3
    • 0032953645 scopus 로고    scopus 로고
    • Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
    • Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, et al. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 1999;21:91-4.
    • (1999) Nat Genet , vol.21 , pp. 91-94
    • Nezu, J.1    Tamai, I.2    Oku, A.3    Ohashi, R.4    Yabuuchi, H.5    Hashimoto, N.6
  • 4
    • 33646510996 scopus 로고    scopus 로고
    • Pharmacological rescue of carnitine transport in primary carnitine deficiency
    • Amat di San Filippo C, Pasquali M, Longo N. Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat 2006;27:513-23.
    • (2006) Hum Mutat , vol.27 , pp. 513-523
    • di San Filippo, C.A.1    Pasquali, M.2    Longo, N.3
  • 5
    • 20444507654 scopus 로고    scopus 로고
    • Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency
    • Ylitalo K, Vänttinen T, Halmesmäki E, Tyni T. Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency. Am J Obstet Gynecol 2005; 192: 2060-2.
    • (2005) Am J Obstet Gynecol , vol.192 , pp. 2060-2062
    • Ylitalo, K.1    Vänttinen, T.2    Halmesmäki, E.3    Tyni, T.4
  • 7
    • 0034837465 scopus 로고    scopus 로고
    • Hepatic carnitine palmitoyltransferase I deficiency: Acylcarnitine profiles in blood spots are highly specific
    • Fingerhut R, Roschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, et al. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem 2001;47:1763-8.
    • (2001) Clin Chem , vol.47 , pp. 1763-1768
    • Fingerhut, R.1    Roschinger, W.2    Muntau, A.C.3    Dame, T.4    Kreischer, J.5    Arnecke, R.6
  • 8
    • 0030688009 scopus 로고    scopus 로고
    • Mitochondrial carnitine acylcarnitine translocase deficiency presenting as sudden neonatal death
    • Chalmers RA, Stanley CA, English N, Wigglesworth JS. Mitochondrial carnitine acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 1997;131:220-5.
    • (1997) J Pediatr , vol.131 , pp. 220-225
    • Chalmers, R.A.1    Stanley, C.A.2    English, N.3    Wigglesworth, J.S.4
  • 10
    • 4444323965 scopus 로고    scopus 로고
    • Carnitineacylcarnitine translocase deficiency, clinical, biochemical and genetic aspects
    • Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ. Carnitineacylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol Aspects Med 2004;25:521-32.
    • (2004) Mol Aspects Med , vol.25 , pp. 521-532
    • Rubio-Gozalbo, M.E.1    Bakker, J.A.2    Waterham, H.R.3    Wanders, R.J.4
  • 11
    • 0015800677 scopus 로고
    • Muscle carnitine palmitoyltransferase deficiency and myoglobinuria
    • DiMauro S, DiMauro PMM. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria. Science 1973;182:929-31.
    • (1973) Science , vol.182 , pp. 929-931
    • DiMauro, S.1    DiMauro, P.M.M.2
  • 12
    • 0037237899 scopus 로고    scopus 로고
    • Lethal neonatal carnitine palmitoyltransferase II deficiency: An unusual presentation of a rare disorder
    • Sharma R, Perszyk AA, Marangi D, Monteiro C, Raja S. Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. Am J Perinat 2003;20:25-32.
    • (2003) Am J Perinat , vol.20 , pp. 25-32
    • Sharma, R.1    Perszyk, A.A.2    Marangi, D.3    Monteiro, C.4    Raja, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.