My Published Medical Articles 

-        Fabry disease in childhood . Presse  Med. 2007.36 (Spec No 1):1S32-5  Link to article

-        Absence epilepsy and/or myoclonic epilepsy in child, think of Glut1 deficiency syndrome  (two case reports) . J Inherit Metab Dis 2008.  31(Supp 1):41 Link to article

-        Infantile form of Pompe Disease: two cases with dramatical response to enzymological therapy. J Inherit Metab Dis 2008.  31(Supp 1):126 Link to article

-        Liver Failure in a 18 month girl with celiac disease  - Journal of Pediatric Gastroenterology and Nutrition  2004 . 39 (Supp 1) : S160  Link to article

-        Arthrogrypose congenitale chez un nouveau ne : a propos d'un cas, revue de litterature. Rev.  Med. Liban.  2005. 17(2) :67-70

-        Manifestations extraintestinales de la maladie celiaque : A propos d'un cas d'hepatite fulminante Rev. Med. Liban.  2005. 17(2) : 79-82

-        Electrical Status Epilepticus During Slow Sleep: a Review of 7 Pediatric Cases , Epilepsia Suppl. 0 (Abst. 3.117 ), 2010

-        H1N1 from simple flue to encephalitis and septic shock  - Journal of Neonatal-Perinatal Medicine Volume 3, number 3, 2010

-        Participation to CHANCE publication : أورام الدماغ و الحبل الشوكي

-        Debat Pourtour mediterraneen: les maladies neuromusculaires au Liban. Rare 2013 : les rencontres Eurobiomed 2013 - medecine/sciences 2014 ; 30 (hors serie n 1) : 40-6  Link to article

-        Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis - BMJ Case Rep. 2013 Apr 29;2013. Link to article

-        Les maladies rares au Liban: difficultes diagnostiques et therapeutiques - Arch Pediatr. 2015 May;22(5 Suppl 1):1-2. doi: 10.1016/S0929-693X(15)30002-6. Link to article

-        Pilot study of IEM by MS/MS in Lebanon: An additional step towards a national registry - J Inherit Metab Dis (2015) 38 (Suppl 1):S1-S34   (S6) Link to article

-        Beware of abnormal capillary electrophoretic patterns of serum transferrin: congenital disorder of glycosylation (CDG) type I can be associated with a protein variant  - J Inherit Metab Dis (2016) 39 (Suppl 1):S1-S34 - Link to article

-        A Case of Reverse Shapiro Syndrome Responding to Cyprohepatadine. SM J Pediatr. 2017; 2(2): 1010 Link to article

-        Celiac Disease Overlooked in a Patient With Becker Muscle Dystrophy. J Emerg Rare Dis. 2018 Feb;1(2):107. Link to article

-       Clinical and Paraclinical Aspects of Mitochondrial Diseases in 257 Lebanese Children. SM J Pediatr Link to article

-        From Confusion to Autism: When to Think of an Inborn Error of Metabolism? J Birth Defects 1:3. Link to article

-        Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases. Mol Genet Genomic Med. 2018;00:1-12 -Link to article

-        The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population BMC Medical Genomics 2019; 12:11 Link to article

-        The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency - J Pediatr Genet   Link to article

-        Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review. J Pediatr Genet  Link to article

-        Shapiro Syndrome Secondary to a Vein of Galen Malformation Responding to Cyproheptadine: A Case Report and Review. J Paediatr Neonatol Med 1(1): 103 Link to article

-        Acute Encephalitis in a Pediatric Patient Due to HHV 7: A Case Report and Review. J Paediatr Neonatal Med 1(2): 107 Link to article

-        Potocki Lupski Syndrome with Carnitine Deficiency in a Lebanese Patient. Clin Neurol. 2020;1(1):1005. Link to article

-        Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy, Ophthalmic Genetics, Link to article

 -     Plexiform Penile Neurofibroma: A Case Report of a Rare Entity in a Pre-Pubertal Child. Urology 2021 Jun 12;S0090-4295(21)00484-2. Link to article

-      A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. J Neuromuscul Dis. 2021 Sep 24.  Link to article    

-       Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East. Front Pediatr. 2021 Sep 13;9:716424. Link to article