selected publications
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NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.
BMC medical genetics.
2017
Article
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Times cited: 20 -
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Annals of neurology.
2017
Academic Article
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Times cited: 77 -
Neuro-imaging evaluation after the first afebrile seizure in children: A retrospective observational study.
Seizure.
2016
Academic Article
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Times cited: 19 -
Flavored Intravenous Ondansetron Administered Orally for the Treatment of Persistent Vomiting in Children.
Journal of tropical pediatrics.
2016
Academic Article
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Times cited: 3 -
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.
Journal of inherited metabolic disease.
2015
Academic Article
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Times cited: 19 -
Oral dexamethasone for bronchiolitis: a randomized trial.
Pediatrics.
2013
Academic Article
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Times cited: 61 -
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.
Orphanet journal of rare diseases.
2012
Article
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Times cited: 45 -
Natural course of glutamine synthetase deficiency in a 3 year old patient.
Molecular genetics and metabolism.
2011
Article
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Times cited: 53 -
Nebulized 5% or 3% hypertonic or 0.9% saline for treating acute bronchiolitis in infants.
The Journal of pediatrics.
2010
Academic Article
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Times cited: 75