My Published Medical Articles
-
Fabry disease in childhood .
Presse Med.
2007.36 (Spec No 1):1S32-5
-
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
-
Infantile
form of Pompe Disease: two cases with dramatical response to
enzymological therapy. J Inherit Metab Dis 2008.
31(Supp 1):126
-
Liver Failure
in a 18 month girl with celiac disease
- Journal of Pediatric Gastroenterology and Nutrition
2004 . 39 (Supp 1) : S160
-
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.
-
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)
- 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
-
Celiac Disease Overlooked in a
Patient With Becker Muscle Dystrophy. J Emerg Rare Dis. 2018
Feb;1(2):107.
- Clinical and
Paraclinical Aspects of Mitochondrial Diseases in 257 Lebanese
Children. SM J Pediatr
-
From
Confusion to Autism: When to Think of an Inborn Error of
Metabolism? J Birth Defects 1:3.
-
Contribution of next generation sequencing in pediatric
practice in Lebanon. A Study on 213 cases. Mol Genet Genomic
Med. 2018;00:1-12 -
- 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
-
Further Delineation of the
TRAPPC6B Disorder: Report on a New Family and Review. J
Pediatr Genet
-
Shapiro Syndrome
Secondary to a Vein of Galen Malformation Responding to
Cyproheptadine: A Case Report and Review. J Paediatr Neonatol
Med 1(1): 103
-
Acute Encephalitis in a Pediatric Patient Due to HHV
7: A Case Report and Review. J Paediatr Neonatal Med 1(2): 107
-
Potocki Lupski Syndrome with
Carnitine Deficiency in a Lebanese Patient. Clin Neurol.
2020;1(1):1005.
- Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East. Front Pediatr. 2021 Sep 13;9:716424. Link to article