title: Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida Konoecho, Kyoto 606-8501, Japan. koizumi.akio.5v@kyoto-u.ac.jp.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Hitomi
authors.forename: Norio
authors.initials: N
authors.lastname: Matsuura
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Okano
authors.forename: Eri
authors.initials: E
authors.lastname: Shinozaki
authors.forename: Masahiko
authors.initials: M
authors.lastname: Kawai
authors.forename: Hatasu
authors.initials: H
authors.lastname: Kobayashi
authors.forename: Kouji H
authors.initials: KH
authors.lastname: Harada
authors.forename: Akio
authors.initials: A
authors.lastname: Koizumi
mesh_terms: D001483:Base Sequence; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D025202:Molecular Diagnostic Techniques; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics; D020125:Mutation, Missense; D015997:Neonatal Screening; D027701:Organic Cation Transport Proteins / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D000074058:Solute Carrier Family 22 Member 5
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine
references.citation: Mol Genet Metab. 2010 May;100(1):46-50
references.pmid: 20074989
references.citation: Hum Mol Genet. 1999 Apr;8(4):655-60
references.pmid: 10072434
references.citation: Eur J Pediatr. 1988 Aug;147(6):662-3
references.pmid: 3181209
references.citation: J Inherit Metab Dis. 2004;27(4):473-6
references.pmid: 15303004
references.citation: Am J Med Genet. 2002 Aug 15;111(3):271-84
references.pmid: 12210323
references.citation: Orphanet J Rare Dis. 2012 Sep 18;7:68
references.pmid: 22989098
references.citation: N Engl J Med. 1980 Dec 11;303(24):1389-94
references.pmid: 7432384
references.citation: Nat Genet. 1999 Jan;21(1):91-4
references.pmid: 9916797
references.citation: N Engl J Med. 1988 Nov 17;319(20):1331-6
references.pmid: 3185635
references.citation: Hum Mol Genet. 1999 Nov;8(12):2247-54
references.pmid: 10545605
references.citation: Genet Med. 2010 Jan;12(1):19-24
references.pmid: 20027113