All Stories

  1. Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

    Article • November 2014, Taylor & Francis

    Dr Majid Alfadhel, Majid ALFADHEL

  2. Hereditary Neurometabolic Causes of Infantile Spasms in 80 Children Presenting to a Tertiary Care Center

    Article • Pediatric Neurology, September 2014, Elsevier

    Dr Majid Alfadhel, Dr AHMAD Abdulaziz ABULABAN

  3. Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

    Article • The Journal of Pediatrics, March 2014, Elsevier

    Dr Majid Alfadhel, Dr Mohammed A Al Balwi

  4. Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment

    Article • Journal of Central Nervous System Disease, January 2014, Libertas Academica, Ltd.

    Dr Majid Alfadhel

  5. Drug treatment of inborn errors of metabolism: a systematic review

    Article • Archives of Disease in Childhood, March 2013, BMJ

    Dr Majid Alfadhel

  6. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

    Article • Journal of Inherited Metabolic Disease, January 2013, Wiley

    Dr Majid Alfadhel, Dr Mohammed A Al Balwi

  7. Pulmonary Manifestations in a Patient with Transaldolase Deficiency

    Article • JIMD Reports, January 2013, Springer Science + Business Media

    Dr Majid Alfadhel

  8. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

    Article • Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media

    Dr Majid Alfadhel, Dr Mohammed A Al Balwi

  9. Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1

    Article • Therapeutics and Clinical Risk Management, August 2012, Taylor & Francis

    Dr Majid Alfadhel

  10. Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review

    Article • American Journal of Medical Genetics Part A, September 2011, Wiley

    Dr Majid Alfadhel

  11. Precocious Puberty in Two Girls With PEHO Syndrome: A Clinical Feature Not Previously Described

    Article • Journal of Child Neurology, May 2011, SAGE Publications

    Dr Majid Alfadhel

  12. Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

    Article • American Journal of Medical Genetics Part A, March 2011, Wiley

    Dr Majid Alfadhel

  13. Enzyme replacement therapy for Fabry disease: some answers but more questions

    Article • Therapeutics and Clinical Risk Management, February 2011, Taylor & Francis

    Dr Majid Alfadhel

  14. Pre‐ and postnatal findings in a boy with duplication of the bladder and intestine: Report and review

    Article • American Journal of Medical Genetics Part A, November 2009, Wiley

    Dr Majid Alfadhel, Dr ASHLEY JAMES ROBINSON

  15. Senior-Loken syndrome in a Saudi child

    Article • Indian Journal of Nephrology, January 2007, Medknow

    Dr Majid Alfadhel