共 227 条
[1]
Houten SM(2010)A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation J Inherit Metab Dis 33 469-477
[2]
Wanders RJ(1999)Disorders of mitochondrial fatty acyl-CoA beta-oxidation J Inherit Metab Dis 22 442-487
[3]
Wanders RJ(2002)Fatty acid oxidation disorders Annu Rev Physiol 64 477-502
[4]
Vreken P(2008)Mitochondrial fatty acid oxidation defects--remaining challenges J Inherit Metab Dis 31 643-657
[5]
den Boer ME(2010)Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting J Inherit Metab Dis 33 521-526
[6]
Wijburg FA(2005)Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report Clin Chim Acta 354 167-180
[7]
van Gennip AH(2001)Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship Hum Mutat 18 169-189
[8]
IJlst L(2010)Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening J Inherit Metab Dis 33 527-532
[9]
Rinaldo P(2010)The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population J Inherit Metab Dis 33 513-520
[10]
Matern D(2007)Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency Int J Mol Med 19 81-87