Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency

por Ali, Amanat, Dhahouri, Nahid Al, Almesmari, Fatmah Saeed Ali, Fathalla, Waseem Mahmoud, Jasmi, Fatma Al
Publicado 2021

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

por Ali, Amanat, Almesmari, Fatmah Saeed Ali, Dhahouri, Nahid Al, Saleh Ali, Arwa Mohammad, Aldhanhani, Mohammed Ahmed Ali Mohamed Ahmed, Vijayan, Ranjit, Al Tenaiji, Amal, Al Shamsi, Aisha, Hertecant, Jozef, Al Jasmi, Fatma
Publicado 2021

Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy

por Mansoori, Ghadeera Al, Mahmeed, Wael Al, Wani, Saleema, Salih, Bashir Taha, Ansari, Tarek El, Farook, Fathima, Farooq, Zenab, Khair, Howaida, Zaręba, Kornelia, Dhahouri, Nahid Al, Raj, Anjana, Foo, Roger S., Ali, Bassam R., Jasmi, Fatma Al, Akawi, Nadia
Publicado 2023