Title: | Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management |
Journal : | Orphanet journal of rare diseases, 7, 1, 68 |
Authors: | Magoulas PL ; El-Hattab AW |
Material Type: | Article |
Publication Date: | 2012 |
Size: | p. 1-6 |
Languages: | English |
Keywords : | age ; carnitine ; carnitine deficiency ; clinical presentation ; diagnosis ; differential diagnosis ; disease severity ; epidemiology ; genetic counseling ; genetic mutations ; genetics ; heterozygotes ; molecular genetics ; neonatal screening ; OCTN2 gene ; prevalence ; prognosis ; review article ; risk pregnancy ; United States |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=22989098 |
Pubmed / DOI : | DOI : 10.1186/1750-1172-7-68 |
E-copies (1)
Orphanet J Rare Dis 2012, 7(68)-p. 1-6.pdf Adobe Acrobat PDF |