Nontraumatic brain hemorrhage in children: etiology and presentation. RES Al-Jarallah A, Al-Rifai MT, Riela AR J Child Neurol. 15 (5), 284-9., 2000 | 186 | 2000 |
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular … M Alfadhel, M Almuntashri, RH Jadah, FA Bashiri, MT Al Rifai, ... Orphanet journal of rare diseases 8, 1-8, 2013 | 145 | 2013 |
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield A Alfares, M Alfadhel, T Wani, S Alsahli, I Alluhaydan, F Al Mutairi, ... Molecular genetics and metabolism 121 (2), 91-95, 2017 | 84 | 2017 |
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies Brain. 136 (10), 3096-105, 2013 | 83 | 2013 |
Asparagine synthetase deficiency: new inborn errors of metabolism M Alfadhel, MT Alrifai, D Trujillano, H Alshaalan, A Al Othaim, ... JIMD Reports, Volume 22, 11-16, 2015 | 60 | 2015 |
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening M Alfadhel, M Umair, B Almuzzaini, S Alsaif, SA AlMohaimeed, ... Annals of Clinical and Translational Neurology 6 (10), 2097-2103, 2019 | 51 | 2019 |
Risk factors for isolated periventricular leukomalacia KI Al Tawil, HS El Mahdy, MT Al Rifai, HM Tamim, IA Ahmed, SA Al Saif Pediatric neurology 46 (3), 149-153, 2012 | 42 | 2012 |
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans M Alfadhel, M Nashabat, HA Qahtani, A Alfares, FA Mutairi, HA Shaalan, ... Human genetics 135, 1263-1268, 2016 | 40 | 2016 |
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay M Umair, M Ballow, A Asiri, Y Alyafee, A Al Tuwaijri, KM Alhamoudi, ... Clinical Genetics 98 (6), 555-561, 2020 | 30 | 2020 |
Further delineation of the phenotypic spectrum of ISCA2 defect: a report of ten new cases M Alfadhel, M Nashabat, MT Alrifai, H Alshaalan, F Al Mutairi, ... European Journal of Paediatric Neurology 22 (1), 46-55, 2018 | 30 | 2018 |
Worsening of seizures after asparagine supplementation in a child with asparagine synthetase deficiency MT Alrifai, M Alfadhel Pediatric Neurology 58, 98-100, 2016 | 29 | 2016 |
Prevalence and outcomes of Guillain-Barré syndrome among pediatrics in Saudi Arabia: a 10-year retrospective study S Asiri, WA Altwaijri, D Ba-Armah, A Al Rumayyan, MT Alrifai, M Salam, ... Neuropsychiatric disease and treatment, 627-635, 2019 | 28 | 2019 |
Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center. AM Alrifai MT, AlShaya MA, Abulaban A Pediatr Neurol. 51 (3), 390-7, 2014 | 28 | 2014 |
Acute necrotizing encephalopathy of childhood: a multicenter experience in Saudi Arabia FA Bashiri, S Al Johani, MH Hamad, AY Kentab, AH Alwadei, K Hundallah, ... Frontiers in pediatrics 8, 526, 2020 | 22 | 2020 |
Further delineation of the clinical phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome type 4 S Alsahli, MT Alrifai, S Al Tala, FA Mutairi, M Alfadhel Journal of central nervous system disease 10, 1179573518759682, 2018 | 21 | 2018 |
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report A Malik, AB Amer, M Salama, B Haddad, MT Alrifai, MA Balwi, W Davies, ... Journal of Medical Case Reports 11, 1-6, 2017 | 21 | 2017 |
The leukodystrophy spectrum in Saudi Arabia: Epidemiological, clinical, radiological, and genetic data M Alfadhel, M Almuqbil, F Al Mutairi, M Umair, M Almannai, M Alghamdi, ... Frontiers in Pediatrics 9, 633385, 2021 | 17 | 2021 |
The neurological outcome of isolated PVL and severe IVH in preterm infants: is it fair to compare? MT Al Rifai, KI Al Tawil Pediatric Neurology 53 (5), 427-433, 2015 | 17 | 2015 |
An inborn error of metabolism presenting as hypoxic-ischemic insult WM Eyaid, DM Al-Nouri, MS Rashed, MT Al-Rifai, AS Al-Wakeel Pediatric neurology 32 (2), 134-136, 2005 | 16 | 2005 |
Pediatrics COVID-19 and neurological manifestations: Single tertiary centre experience L Aljomah, S Almedlej, D Baarmah, W Altwaijri, A Alrumayyan, MT Alrifai, ... ENeurologicalSci 24, 100355, 2021 | 15 | 2021 |