Molecular autopsy in maternal–fetal medicine

Autor: Shamseldin, Hanan E., Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, Alkuraya, Fowzan S.

Publikováno v: In Genetics in Medicine April 2018 20(4):420-427

Optic neuropathy in classical methylmalonic acidemia.

Autor: AlOwain, Mohammed^1,2 (AUTHOR), Khalifa, Ola Ali³ (AUTHOR), Al Sahlawi, Zahra⁴ (AUTHOR), Hussein, Maged H⁵ (AUTHOR), Sulaiman, Raashda A^1,2 (AUTHOR), Al-Sayed, Moeen^1,2 (AUTHOR), Rahbeeni, Zuhair^1,2 (AUTHOR), Al-Hassnan, Zuhair^1,2 (AUTHOR), Al-Zaidan, Hamad^1,2 (AUTHOR), Nezzar, Hachemi^6,7 (AUTHOR), Al Homoud, Iftetah⁸ (AUTHOR), Eldali, Abdelmoneim⁹ (AUTHOR), Altonen, Brian¹⁰ (AUTHOR), Handoom, Bedour S¹¹ (AUTHOR), Mbekeani, Joyce N^12,13 (AUTHOR) jnanjinga888@gmail.com

Publikováno v: Ophthalmic Genetics. Aug2019, Vol. 40 Issue 4, p313-322. 10p.

Common Organic Acidemias in a Tertiary Hospital in Egypt.

Autor: Mohamed, Amany Hosny, Abdel Fattah, Nada Hammad, Khalifa, Ola Ali

Publikováno v: QJM: An International Journal of Medicine; 2024 Supplement, Vol. 117, pii136-ii136, 1p

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1

Autor: Zayed, Hatem, El Khayat, Hamed, Tomoum, Hoda, Khalifa, Ola, Siddiq, Ehab, Mohammad, Shaimaa A, Gamal, Radwa, Shi, Zumin, Mosailhy, Ahmed, Zaki, Osama K

Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. More than 250 variants in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1664::d10c9bd28399b9a82c8920b0ec2d8953
https://hdl.handle.net/10576/11606

Role of Umbilical Cord C-Peptide Level in Early Detection of Hypoglycemia in Infant of Diabetic Mother.

Autor: Assar, Effat Hussein¹, Rachwan, Maha M. Taher², Khalifa, Ola Abd Elmonem¹ olakhalifa4568@gmail.com, Ahmed, Marwa Elsayed¹

Publikováno v: Egyptian Journal of Hospital Medicine. Jan2023, Vol. 90 Issue 2, p2695-2700. 6p.