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Donna L. Robinson

Clinic for Special Children

22

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Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy.

2021 Muscle & Nerve
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Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

2020 Molecular Genetics and Metabolism
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Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

2020 Molecular Genetics and Metabolism
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Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier

2019 Molecular Genetics and Metabolism
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Genomic diagnostics within a medically underserved population: efficacy and implications

2018 Genetics in Medicine
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Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy

2018 Journal of Pediatric Orthopaedics
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Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia

2017 The Journal of Pediatrics
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Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes

2015 The Journal of Clinical Endocrinology and Metabolism
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Identification of a Sporozoite-Specific Antigen from Toxoplasma gondii

2011 Journal of Parasitology
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Corrigendum to "Classical maple syrup urine disease and brain development: Principles of management and formula design" [Mol. Genet. Metab. 99 (2010) 333-345]

2011 Molecular Genetics and Metabolism
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