A challenging diagnosis of B-ketothiolase deficiency mimicking type 1 diabetes mellitus

by Amal Ali Al-Hakami, Malak Ali Alghamdi, Khalid Sumaily, Reem Abdullah Al-Khalifah
Published 2021-01-01

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

by Malak Ali Alghamdi, Waleed H. Alkhamis, Dima Z. Jamjoom, Reem Al Khalifah, Nawaf Rahi Alshammari, Khalid Alsumaili, Stefan T. Arold
Published 2021-01-01

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

by Malak Ali Alghamdi, Jaazeel Mulla, Narjes Saheb Sharif-Askari, Francisco J. Guzmán-Vega, Stefan T. Arold, Mervat Abd-Alwahed, Nasser Alharbi, Tarek Kashour, Rabih Halwani
Published 2021-01-01