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Health / Solute carrier family / Transport proteins / Fatty acids / Rare diseases / Systemic primary carnitine deficiency / Carnitine / Fatty-acid metabolism disorder / SLC22A5 / Medicine / Hepatology / Biology


CARNITINE TRANSPORTER DEFICIENCY (CTD) REFERENCES (SYSTEMIC CARNITINE DEFICIENCY; CARNITINE DEFICIENCY, PRIMARY; CARNITINE UPTAKE DEFECT; CUD) 1. 2.
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Document Date: 2007-06-25 16:36:03


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City

Atlanta / OMIM / New York / /

Company

Engel AG / Eaton / Wiley V Sim KG / McGraw-Hill / /

Facility

Arch Dis Child / /

MedicalCondition

childhood cardiomyopathies / Silent and symptomatic primary carnitine deficiency / carnitine responsive cardiomyopathy / acute coma / cardiomyopathy / prolonged illness / Familial carnitine deficiency / fatty acid oxidation disorders / familial endocardial fibroelastosis / common inherited metabolic diseases / peripheral neuropathy / Familial systemic carnitine deficiency / Carnitine membrane transporter deficiency / primary carnitine deficiency / Inherited Disease / Chronic cardiomyopathy / related disorders / CARNITINE TRANSPORTER DEFICIENCY / Human Primary Systemic Carnitine Deficiency / carnitine palmitoyltransferase deficiency / Metabolic cardiomyopathies / CARNITINE DEFICIENCY / deficiency / MS / hypoglycemia / Primary systemic carnitine deficiency / treatable cardiomyopathy / SYSTEMIC CARNITINE DEFICIENCY / syndrome / Genetic Disorders / /

Person

Arch Neurol / Ding J. Mitochondrial / Ann Neurol / Arch Biochem Biophys / Gene Locus / /

Position

Bucknall MP / Coates PM / Carpenter / Chan RT / /

ProvinceOrState

New York / /

RadioStation

Glasgow AM / Lamhonwah AM / Vaz FM / /

Technology

Genomics / genotype / /

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