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Spinal Muscular Atrophies of Childhood
Subject Areas on Research
Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks.
An infant with hypoplastic left heart syndrome and spinal muscular atrophy.
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.
Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.
Spinal muscular atrophy type 1 quality of life.
Successful use of extracorporeal membrane oxygenation in a child with obstructive shock due to massive bilateral pulmonary embolism.
Keywords of People
Case, Laura Elizabeth
, Associate Professor in Orthopaedic Surgery,
Pediatrics, Medical Genetics
