A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth

[1]  J. Jans,et al.  Differences between acylcarnitine profiles in plasma and bloodspots. , 2013, Molecular genetics and metabolism.

[2]  Y. Chien,et al.  Fatty Acid oxidation disorders in a chinese population in taiwan. , 2013, JIMD reports.

[3]  M. Mueller,et al.  Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening. , 2012, JIMD reports.

[4]  T. Fukao,et al.  Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation. , 2010, The Tohoku journal of experimental medicine.

[5]  R. Wanders,et al.  A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation , 2010, Journal of Inherited Metabolic Disease.

[6]  M. Yudkoff,et al.  Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. , 2010, The Journal of pediatrics.

[7]  W. Wuyts,et al.  Carnitine‐palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening , 2008, American journal of medical genetics. Part A.

[8]  H. Kido,et al.  Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza‐associated encephalopathy , 2008, Human mutation.

[9]  A. Ohtake,et al.  Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency , 2008, Clinical genetics.

[10]  I. Nishino,et al.  A JAPANESE ADULT FORM OF CPT II DEFICIENCY ASSOCIATED WITH A HOMOZYGOUS F383Y MUTATION , 2007, Neurology.

[11]  R. Wanders,et al.  Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. , 2006, The Journal of pediatrics.

[12]  S. Yorifuji.  [Carnitine palmitoyltransferase II deficiency]. , 2002, Nihon rinsho. Japanese journal of clinical medicine.

[13]  J. Kira,et al.  Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes , 1998, Human mutation.

[14]  M. S. Murthy,et al.  Some differences in the properties of carnitine palmitoyltransferase activities of the mitochondrial outer and inner membranes. , 1987, The Biochemical journal.