Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations

door Nashabat, Marwan, Al-Khenaizan, Sultan, Alfadhel, Majid
Gepubliceerd in Ther Clin Risk Manag (2018)

Report of a Case that Expands the Phenotype of Infantile Krabbe Disease

door Nashabat, Marwan, Al-Khenaizan, Sultan, Alfadhel, Majid
Gepubliceerd in Am J Case Rep (2019)

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

door Aljassim, Nada, Alfadhel, Majid, Nashabat, Marwan, Eyaid, Wafa
Gepubliceerd in Mol Genet Metab Rep (2020)

Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease

door Alfadhel, Majid, Nashabat, Marwan, Ali, Qais Abu, Hundallah, Khalid
Gepubliceerd in Neurosciences (Riyadh) (2017)

Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report

door Alshenqiti, Abduljabbar, Nashabat, Marwan, AlGhoraibi, Hissah, Tamimi, Omar, Alfadhel, Majid
Gepubliceerd in Ther Clin Risk Manag (2017)

Delineation of cystinuria in Saudi Arabia: A case series

door Obaid, Abdulrahman, Nashabat, Marwan, Al Fakeeh, Khalid, Al Qahtani, Abdullah T., Alfadhel, Majid
Gepubliceerd in BMC Nephrol (2017)

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review

door Alfadhel, Majid, Nashabat, Marwan, Hundallah, Khalid, Al Hashem, Amal, Alrumayyan, Ahmed, Tabarki, Brahim
Gepubliceerd in Child Neurol Open (2018)

Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

door Tabarki, Brahim, Hakami, Wejdan, Alkhuraish, Nader, Graies-Tlili, Kalthoum, Nashabat, Marwan, Alfadhel, Majid
Gepubliceerd in Front Neurol (2021)

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

door Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid
Gepubliceerd in Front Pediatr (2020)

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

door Alghamdi, Malak, Alhasan, Khalid A., Taha Elawad, Areej, Salim, Suha, Abdelhakim, Marwa, Nashabat, Marwan, Raina, Rupesh, Kari, Jameela, Alfadhel, Majid
Gepubliceerd in Front Pediatr (2020)

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

door Barhoumi, Tlili, Nashabat, Marwan, Alghanem, Bandar, Alhallaj, AlShaimaa, Boudjelal, Mohamed, Umair, Muhammad, Alarifi, Saud, Alfares, Ahmed, Mohrij, Saad A. Al, Alfadhel, Majid
Gepubliceerd in Front Genet (2019)

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

door Alhamoudi, Kheloud M., Barhoumi, Tlili, Al-Eidi, Hamad, Asiri, Abdulaziz, Nashabat, Marwan, Alaamery, Manal, Alharbi, Masheal, Alhaidan, Yazeid, Tabarki, Brahim, Umair, Muhammad, Alfadhel, Majid
Gepubliceerd in Sci Rep (2021)

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency

door Obaid, Abdulrahman, Nashabat, Marwan, Alfadhel, Majid, Alasmari, Ali, Al Mutairi, Fuad, Alswaid, Abdulrahman, Faqeih, Eissa, Mushiba, Aziza, Albanyan, Marwah, Alalwan, Maryam, Marsden, Deborah, Eyaid, Wafaa
Gepubliceerd in JIMD Rep (2017)

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

door Asiri, Abdulaziz, Aloyouni, Essra, Umair, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Almuzzaini, Bader, Al Baz, Abeer, Alwadaani, Deemah, Nashabat, Marwan, Alfadhel, Majid
Gepubliceerd in Ann Clin Transl Neurol (2020)

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

door Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu
Gepubliceerd in Hum Genet (2016)

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized control...

door Nashabat, Marwan, Obaid, Abdulrahman, Al Mutairi, Fuad, Saleh, Mohammed, Elamin, Mohammed, Ahmed, Hind, Ababneh, Faroug, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Aljeraisy, Majed, Hussein, Mohamed A., Alasmari, Ali, Alfadhel, Majid
Gepubliceerd in BMC Pediatr (2019)

A Trial of Favipiravir and Hydroxychloroquine combination in Adults Hospitalized with moderate and severe Covid-19: A structured summary of a study protocol for a randomised contro...

door Bosaeed, Mohammad, Mahmoud, Ebrahim, Hussein, Mohammad, Alharbi, Ahmad, Alsaedy, Abdulrahman, Alothman, Adel, Aljeraisy, Majed, Alqahtani, Hajar, Nashabat, Marwan, Almutairi, Badriah, Almaghaslah, Manar, Aldibasi, Omar, AlJohani, Sameera, Bouchama, Abderrezak, Arabi, Yaseen, Alaskar, Ahmad
Gepubliceerd in Trials (2020)

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

door Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Alsaif, Saif, AlMohaimeed, Sulaiman A., Almashary, Maher A., Alharbi, Wardah, Alayyar, Latifah, Alasiri, Abdulrahman, Ballow, Mariam, AlAbdulrahman, Abdulkareem, Alaujan, Monira, Nashabat, Marwan, Al‐Odaib, Ali, Altwaijri, Waleed, Al‐Rumayyan, Ahmed, Alrifai, Muhammad T., Alfares, Ahmed, AlBalwi, Mohammed, Tabarki, Brahim
Gepubliceerd in Ann Clin Transl Neurol (2019)