M. Alrifai

发表

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

F. Alkuraya, S. Arold, K. Wierenga, 2016, Human Genetics.

Pseudotumor cerebri in a child receiving peritoneal dialysis: recovery of vision after lumbo-pleural shunt

M. Alrifai, Foad Al Naji, A. Alamir, 2011, Annals of Saudi medicine.

Psychosocial Problems in Children with Idiopathic Epilepsy

M. Alrifai, M. Alturki, Q. S. Alrashidi, 2018 .

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

Muhammad Umair, M. Alfadhel, A. Alfares, 2019, Annals of clinical and translational neurology.

Clinical Presentation and outcome of acute disseminated encephalomyelitis in Saudi Arabia

M. Alrifai, Mohammed. Altuwaijri., Nawaf A. Alharthi, 2019, Neurosciences.

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings

M. Alfadhel, M. Alrifai, Maha A. Al-Rakan, 2018, BMC Ophthalmology.

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

P. Bauer, A. Bertoli-Avella, E. Faqeih, 2021, Frontiers in Pediatrics.

What Is the Effect of Topiramate Use on Growth in Children With Epilepsy?

M. Alrifai, Mohammed Alqassim, Noura Alsubaie, 2022, Cureus.

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Robert W. Taylor, N. Kaya, B. Plecko, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Retrospective review of pediatric status epilepticus in 116 Saudi patients: predictors of outcome

M. Alrifai, M. Alsemari, Waleed Altuwaijri, 2017, Annals of Saudi medicine.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

E. Stupka, M. Dattani, F. Alkuraya, 2013, Brain : a journal of neurology.

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

M. Alfadhel, A. Alswaid, W. Eyaid, 2018, Journal of child neurology.

Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia

M. Salih, F. Bashiri, M. Hamad, 2020, Frontiers in Pediatrics.

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

D. Trujillano, A. Rolfs, M. Alfadhel, 2015, JIMD reports.

The response patterns of infantile spasms to treatments in 156 patients

M. Alrifai, Ahmad Bali, Safiyyah Asiri, 2022, Neurosciences.

Prevalence and outcomes of Guillain-Barré syndrome among pediatrics in Saudi Arabia: a 10-year retrospective study

M. Salam, Adel F. Almutairi, M. Alrifai, 2019, Neuropsychiatric disease and treatment.

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

W. Davies, Mohammed A. Salama, W. Eyaid, 2017, Journal of Medical Case Reports.

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

K. Xia, B. Peterlin, R. Maroofian, 2020, Human Genetics.

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

R. Hoehndorf, Azza Althagafi, Muhammad Umair, 2020, Clinical genetics.

Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center.

M. Alfadhel, Ahmad Abulaban, M. Alrifai, 2014, Pediatric neurology.

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

A. Zada, M. Alfadhel, A. Alfares, 2017, Molecular genetics and metabolism.

Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency.

M. Alfadhel, M. Alrifai, 2016, Pediatric neurology.

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

M. Alfadhel, F. Mutairi, M. Alrifai, 2018, Journal of central nervous system disease.

Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics

M. Alfadhel, A. Alfares, Mohammad Qrimli, 2020, Annals of human genetics.

Clinical Characteristics and Risk Factors of Neonatal Hypoxic-Ischaemic Encephalopathy and Its Associated Neurodevelopmental Outcomes During the First Two Years of Life: A Retrospective Study in Saudi Arabia

H. Al-shehri, M. Alrifai, W. Altwaijri, 2023, International journal of general medicine.

Pediatrics COVID-19 and neurological manifestations: Single tertiary centre experience

M. Alrifai, W. Altwaijri, Ahmad Alrumayyan, 2021, eNeurologicalSci.

Phenotype and Genotype of Saudi Pediatric Patients With Neurofibromatosis Type 1: A Seven-Year Multicenter Experience From Saudi Arabia

A. Alharbi, M. Alrifai, Nawaf Alawad, 2023, Cureus.

Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series

M. Alfadhel, F. Al Mutairi, M. Alrifai, 2023, Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society.

Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One

M. Alrifai, Yousof Alrumayyan, Abdulrahman Swaid, 2024, Journal of child neurology.