Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Carla Chikhani"'
Autor:
Marwa El Masri, Carla Chikhani, Hicham Mansour, Rami Ghabril, Dany Hamod, Andre Mgarbane, Maroun Sokhn
Publikováno v:
Journal of Rare Diseases and Orphan Drugs. :1-4
Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive metabolic disorder characterized by an unpredictable pattern of presentation and a wide phenotypic spectrum. DLD is a common constituent of multiple mitochondrial complexes. It
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9f60b8a0f22f6456b754b99a24ba95d
https://doi.org/10.36013/jrdod.vi.114
https://doi.org/10.36013/jrdod.vi.114
Autor:
Bassim Issa, Hicham Mansour, Elias Gerges Mansour, Gabriel Jabbour, Carla Chikhani, Michel Jabbour
Publikováno v:
Urology. 156
Neurofibromatosis is a group of genetic disorders and consists of 2 forms: Neurofibromatosis type 1 (NF-1) and Neurofibromatosis type 2. The most common is the NF-1 which is also known as von Recklinghausen's disease. The presentation and clinical ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1da75216208ba11a969c4fcab52c991f
https://pubmed.ncbi.nlm.nih.gov/35339511
https://pubmed.ncbi.nlm.nih.gov/35339511