selected publications
-
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.
2017
GET IT
Times cited: 15 -
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Annals of neurology.
2017
Academic Article
GET IT
Times cited: 54 -
Neuro-imaging evaluation after the first afebrile seizure in children: A retrospective observational study.
Seizure.
2016
Academic Article
GET IT
Times cited: 12 -
Flavored Intravenous Ondansetron Administered Orally for the Treatment of Persistent Vomiting in Children.
Journal of tropical pediatrics.
2016
Academic Article
GET IT
Times cited: 2 -
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.
Journal of inherited metabolic disease.
2015
Academic Article
GET IT
Times cited: 16 -
Oral dexamethasone for bronchiolitis: a randomized trial.
Pediatrics.
2013
Academic Article
GET IT
Times cited: 44 -
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.
2012
GET IT
Times cited: 36 -
Natural course of glutamine synthetase deficiency in a 3 year old patient.
2011
GET IT
Times cited: 40 -
Nebulized 5% or 3% hypertonic or 0.9% saline for treating acute bronchiolitis in infants.
The Journal of pediatrics.
2010
Academic Article
GET IT
Times cited: 73