RESEARCH NOTE The importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency TOSHIAKI HITOMI1,a, NORIO MATSUURA1,a, YOSUKE SHIGEMATSU2, YOSHIYUKI OKANO3, ERI SHINOZAKI4, MASAHIKO KAWAI5, - SLC22A5 - Document - PDFSEARCH.IO - Document Search Engine

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	RESEARCH NOTE The importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency TOSHIAKI HITOMI1,a, NORIO MATSUURA1,a, YOSUKE SHIGEMATSU2, YOSHIYUKI OKANO3, ERI SHINOZAKI4, MASAHIKO KAWAI5, Add to Reading List Document Date: 2014-10-27 08:11:23 Open Document File Size: 560,64 KB Share Result on Facebook City Kyoto / / Company Kyoto University Institutional Review / / Country Japan / United States / / / Facility University of Fukui / Kyoto University / Kyoto University Hospital / University Institutional Review Board / Hyogo College / Ishikawa Prefectural Central Hospital / University Graduate School / / IndustryTerm restriction site / / MedicalCondition Hereditary / comatose / cardiomyopathy / disease / mild viral infection / systemic primary carnitine deficiency / Reye’s syndrome / Reye's syndrome / systemic carnitine deficiency TOSHIAKI HITOMI1 / suspected Reye’s syndrome / Reye’s-like syndrome / primary carnitine deficiency / encephalopathy / skeletal myopathy / hypoketotic hypoglycaemic encephalopathy / carnitine deficiency / primary systemic carnitine deficiency / Systemic carnitine deficiency / progressive cardiomyopathy / disorders / / Organization Ishikawa Prefectural Central Hospital / Kyoto University Graduate School / Japan Society for the Promotion of Science / Kyoto University / Department of Pediatrics / Department of Health Science / Kyoto University Hospital / Hyogo College / University of Fukui / Department of Health / Ethics Committee / Department of Genetics / Faculty of Medical Sciences / / Person Yoshida Konoecho / Akio Koizumi / / Position Professor / R. / Bawle E. V. / Adams D. J. / / ProvinceOrState Alaska / / Technology bioinformatics / DNA sequencing / genotype / Two computer-based algorithms / / URL http / SocialTag Chemistry Rare diseases Dietary supplements Quaternary ammonium compounds Systemic primary carnitine deficiency Carnitine SLC22A5 Newborn screening Health Medicine