Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Onizuka, Rusell"'
Autor:
Lamhonwah, Anne-Marie, Olpin, Simon E., Pollitt, Rodney J., Vianey-Saban, Christine, Divry, Priscille, Guffon, Nathalie, Besley, Guy T., Onizuka, Rusell, De Meirleir, Linda J., Cvitanović-Sojat, Ljerka, Barić, Ivo, Dionisi-Vici, Carlo, Fumić, Ksenija, Maradin, Miljenka, Tein, Ingrid
Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encepha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8e4568ab74addaca0ee49cae839fc907
https://biblio.vub.ac.be/vubir/novel-octn2-mutations-no-genotypephenotype-correlations-early-carnitine-therapy-prevents-cardiomyopathy(e33c7949-f7e1-4557-bd4b-06607f979059).html
https://biblio.vub.ac.be/vubir/novel-octn2-mutations-no-genotypephenotype-correlations-early-carnitine-therapy-prevents-cardiomyopathy(e33c7949-f7e1-4557-bd4b-06607f979059).html
