Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Zahra Al Sahlawi"'
Publikováno v:
Journal of Central Nervous System Disease, Vol 16 (2024)
MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) is an ultra-rare autosomal recessive disorder that leads to mutations in the nuclear genes encoding thymidine phosphorylase. Symptoms include gastrointestinal dysmotility, cachexia, ptosis
Externí odkaz:
https://doaj.org/article/0695fef27f5f42e5901381af2661b778
Autor:
Ola Khalifa, Hachemi Nezzar, Mohammed Al-Owain, Bedour S Handoom, Zahra Al Sahlawi, Abdelmoneim Eldali, Maged H. Hussein, Zuhair Rahbeeni, Raashda A Sulaiman, Hamad Al-Zaidan, Moeen Al-Sayed, Iftetah Al Homoud, Joyce N. Mbekeani, Brian Altonen, Zuhair N. Al-Hassnan
Publikováno v:
Ophthalmic Genetics. 40:313-322
Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic neuropathy have been reported. The prevalence of optic neuropathy in visually asymptom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb98326158b0245fa9ab7b9d143f4a4
https://doi.org/10.1080/13816810.2019.1634740
https://doi.org/10.1080/13816810.2019.1634740
Autor:
Gheid Abuharb, Abeer Al-Mostafa, Rabab Allam, Zahra Al-Sahlawi, Maaly Abdel-Fattah, Hamad Al-Zaidan, Alain Verloes, Khushnooda Ramzan, Michael Nester, Faiqa Imtiaz, Ola Khalifa
Publikováno v:
European Journal of Medical Genetics. 58:293-299
Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade myopia, deafness and low molecular weight proteinuria. The disorder results from mutations in the low dens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a21e0e6bed2f9bce89a37785a8e2e3f2
https://doi.org/10.1016/j.ejmg.2014.12.008
https://doi.org/10.1016/j.ejmg.2014.12.008