Genetics

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Baertling, F., Al-Murshedi, F., Sánchez-Caballero, L., Al-Senaidi, K., Joshi, N. P., Venselaar, H., van den Brand, M. A., Nijtmans, L. G. & Rodenburg, R. J., 2017, (Accepted/In press) In: Human Mutation.

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

Guidelines for acute management of hyperammonemia in the Middle East region

Alfadhel, M., Al Mutairi, F., Makhseed, N., Al Jasmi, F., Al-Thihli, K., Al-Jishi, E., AlSayed, M., Al-Hassnan, Z. N., Al-Murshedi, F., Häberle, J., Ben-Omran, T. & Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG), Mar 31 2016, In: Therapeutics and Clinical Risk Management. 12, p. 479-487 9 p.

Research output: Contribution to journal › Article › peer-review

19 Citations (Scopus)

Occurrence of optic neuritis and cervical cord Schwannoma with Charcot-Marie-tooth type 4B1 disease

Scott, P., Bruwer, Z., Al-Kharusi, K., Meftah, D. & Al-Murshedi, F., May 2016, In: Oman Medical Journal. 31, 3, p. 227-230 4 p.

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)