Publications:

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Orphanet Journal Of Rare Diseases

Alfadhel, Majid M; Benmeakel, Mohammed M; Hossain, Mohammad Arif MA; Al Mutairi, Fuad F; Al Othaim, Ali A; Alfares, Ahmed A AA; Al Balwi, Mohammed M; Alzaben, Abdullah A; Eyaid, Wafaa W

Publication Date: 2016-09-15

Variant appearance in text: PC: Gly117Asp

PubMed Link: 27629047

Variant Present in the following documents:

• Main text
• 13023_2016_Article_510.pdf

View BVdb publication page

Repository of mutations from Oman: The entry point to a national mutation database.

F1000Research

Rajab, Anna A; Hamza, Nishath N; Al Harasi, Salma S; Al Lawati, Fatma F; Gibbons, Una U; Al Alawi, Intesar I; Kobus, Karoline K; Hassan, Suha S; Mahir, Ghariba G; Al Salmi, Qasim Q; Mons, Barend B; Robinson, Peter P

Publication Date: 2015

Variant appearance in text: PC: 350G>A

PubMed Link: 26594346

Variant Present in the following documents:

• Main text
• f1000research-4-7471.pdf

View BVdb publication page