Search Results - "Mundada, Vivek"
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Real-World Data in Children with Spinal Muscular Atrophy Type 1 on Long-Term Ventilation Receiving Gene Therapy: A Prospective Cohort Study
Published in Advances in respiratory medicine (28-08-2024)“…Patients with spinal muscular atrophy type 1 (SMA-1) requiring invasive ventilation can be eligible for gene therapy if they tolerate at least 8 h off…”
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BCG reactivation in an infant with multisystem inflammatory syndrome in children
Published in Archives of disease in childhood (01-01-2023)“…Table 1 Relevant investigations and their trend seen from the day of illness Day of illness Day 1 admission Day 4 Day 6 Day 8 Day 11 Biological reference…”
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New scalp swelling in a child with tuberous sclerosis complex
Published in Archives of disease in childhood (01-09-2022)Get full text
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Gingival hyperplasia in a child with spinal muscular atrophy type 1
Published in Archives of disease in childhood (01-10-2024)“…Correspondence to Dr Nidhi Beri, Special Need Dentistry, Aster DM Healthcare, Dubai, Dubai, UAE; nidhi.beri@icloud.com A school-aged female child with spinal…”
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Effect on maximal mouth opening in children with spinal muscular atrophy treated with onasemnogene abeparvovec
Published in Archives of disease in childhood (01-10-2023)“…Tools like maximum tongue pressure and maximum mouth opening (MMO) are often used as clinical and sensitive outcome measures for assessing oral function…”
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Onasemnogene abeparvovec gene therapy for spinal muscular atrophy: A cohort study from the United Arab Emirates
Published in Muscle & nerve (01-10-2024)“…Introduction/Aims Spinal muscular atrophy (SMA) manifests with progressive motor neuron degeneration, leading to muscle weakness. Onasemnogene abeparvovec is a…”
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Brain injury in children and young people: does ethnic background, injury type or severity affect outcomes at follow-up?
Published in European journal of paediatric neurology (01-06-2017)Get full text
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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Published in Epilepsia (Copenhagen) (01-04-2017)“…Summary Objective The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy…”
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Self-assessment
Published in Paediatrics and child health (01-05-2015)Get full text
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10
Different stroke(s)
Published in Archives of disease in childhood. Education and practice edition (01-06-2016)Get more information
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Answers to Epilogue questions
Published in Archives of disease in childhood. Education and practice edition (01-06-2016)Get more information
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Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond
Published in Journal of neuromuscular diseases (01-01-2022)“…Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder which leads to progressive muscle degeneration and weakness. Most patients die from…”
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Heterozygous truncation mutations of the SMC 1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Published in Epilepsia (Copenhagen) (01-04-2017)“…Summary Objective The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy…”
Get full text
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14
Lumbar gibbus: early presentation of dysostosis multiplex
Published in Archives of disease in childhood (01-12-2009)“…A second infant aged 6 months who had bilateral moderate sensorineural hearing loss (detected by the neonatal hearing screen) and bilateral inguinal hernias…”
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15
Self-Assessment
Published in Paediatrics and child health (01-07-2009)Get full text
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