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European Journal of Paediatric Neurology

Volumn 8, Issue 4, 2004, Pages 217-219

Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy

(9) Kinali, M a Olpin, S E b Clayton, P T c Daubeney, P E F d Mercuri, E a,f Manzur, A Y a Tein, I e Leonard, J c Muntoni, F a

a HAMMERSMITH HOSPITAL (United Kingdom)

b SHEFFIELD CHILDREN S HOSPITAL (United Kingdom)

c GREAT ORMOND STREET HOSPITAL (United Kingdom)

d ROYAL BROMPTON HOSPITAL (United Kingdom)

e HOSPITAL FOR SICK CHILDREN (Canada)

f CATHOLIC UNIVERSITY (Italy)

Author keywords

Cardiomyopathy; Carnitine; Fatty acid oxidation

Indexed keywords

ACETYLSALICYLIC ACID; CARNITINE; DIGOXIN; DIURETIC AGENT; PENICILLIN G;

AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; BLOOD EXAMINATION; CARNITINE DEFICIENCY; CASE REPORT; COMORBIDITY; CONGESTIVE CARDIOMYOPATHY; DETERIORATION; DIAGNOSTIC TEST; DYSPNEA; EAR INFECTION; ECHOCARDIOGRAPHY; FEEDING DISORDER; FEMALE; HEART BEAT; HUMAN; INFANT; IRRITABILITY; LABORATORY TEST; MUTATIONAL ANALYSIS; PHARYNGITIS; PRIORITY JOURNAL; RECURRENT INFECTION; SENSITIVITY ANALYSIS; SUPPLEMENTATION; SYSTOLIC HEART MURMUR; TANDEM MASS SPECTROMETRY;

CARDIOMYOPATHY, DILATED; CARNITINE; CHROMOSOME ABERRATIONS; DIAGNOSIS, DIFFERENTIAL; ECHOCARDIOGRAPHY; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; ORGANIC CATION TRANSPORT PROTEINS;

EID: 3342882804 PISSN: 10903798 EISSN: None Source Type: Journal
DOI: 10.1016/j.ejpn.2004.03.007 Document Type: Article

Times cited : (3)

References (5)

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- Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.