Systemic primary carnitine deficiency: An overview of clinical manifestations, diagnosis, and management

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Magoulas, Pilar L ^a   El Hattab, Ayman W ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; CARNITINE; CREATINE KINASE; FATTY ACID; METRONIDAZOLE; ORGANIC CATION TRANSPORTER 2;

AMNIOCENTESIS; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CELL MEMBRANE; CHORION VILLUS; CHORION VILLUS SAMPLING; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ETHNICITY; FATIGUE; FATTY ACID OXIDATION; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HEART ARRHYTHMIA; HEPATOMEGALY; HYPERAMMONEMIA; HYPOGLYCEMIA; INCIDENCE; MOLECULAR GENETICS; MYOPATHY; NEWBORN SCREENING; PREGNANCY; PRENATAL DIAGNOSIS; PROGNOSIS; PROTEIN TRANSPORT; REVIEW; SYSTEMIC PRIMARY CARNITINE DEFICIENCY;

ADULT; CARNITINE; CHILD; DIAGNOSIS, DIFFERENTIAL; GENETIC COUNSELING; HUMANS; METABOLISM, INBORN ERRORS; PROGNOSIS;

EID: 84866294498     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-68     Document Type: Review

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