A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency
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概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2003-01-01
著者
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WANDERS Ronald
Department of Pediatrics and Clinical Chemistry, University Hospital Amsterdam AMC
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Wanders Ronald
Department Of Pediatrics University Of Amsterdam Academic Medical Centre
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Smeets Roel
Nijmegen Center For Mitochondrial Disorders Department Of Pediatrics University Medical Centre Nijme
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Van Den
Nijmegen Center For Mitochondrial Disorders Department Of Pediatrics University Medical Centre Nijme
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SMEITINK Jan
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Centre Nij
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SEMMEKROT Ben
Department of Pediatrics, Canisius Wilhelmina Hospital
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SCHOLTE Hans
Department of Biochemistry, Erasmus University Medical Centre Rotterdam, Rotterdam
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Smeitink Jan
Nijmegen Center For Mitochondrial Disorders Department Of Pediatrics University Medical Centre Nijme
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Semmekrot Ben
Department Of Pediatrics Canisius Wilhelmina Hospital
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Scholte Hans
Department Of Biochemistry Erasmus University Medical Centre Rotterdam Rotterdam
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Wanders Ronald
Department Of Genetic Metabolic Diseases University Of Amsterdam Academic Medical Center
関連論文
- Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders
- A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency
- Enzymatic diagnosis of Sjogren-Larsson syndrome using electrospray ionization mass spectrometry