Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Emtithal Aljishi"'
Autor:
Zahra Alsahlawi, Emtithal Aljishi, Ammar Kheyami, Ahmed Alekri, Sayed Mohammed Jawad Alwedaie
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 614-620 (2022)
Abstract Galactosialidosis (GS, OMIM #256540) is a systemic autosomal recessive disorder that is due to a mutation in the cathepsin A (CTSA) gene. Its worldwide prevalence is rare, accounting for ~146 cases reported cases globally. In Bahrain alone,
Externí odkaz:
https://doaj.org/article/d4ba50fcbf53415eb440d49badab702d
Autor:
Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 1, Pp 7-13 (2020)
Background: Lysinuric protein intolerance (LPI) is a metabolic disorder resulting from mutations in the SLC7A7 gene that is inherited in the autosomal recessive pattern. The disease has been described sporadically worldwide, including a few cases fro
Externí odkaz:
https://doaj.org/article/1274066b6b714d74af5db2f4bc056ada
Publikováno v:
Cureus.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee1ad7ed46f6fd4fedd8273ef6de56be
https://doi.org/10.7759/cureus.26043
https://doi.org/10.7759/cureus.26043