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One or more keywords matched the following items that are connected to Swoboda, Kathryn
Item TypeName
Academic Article Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.
Concept Infant, Newborn
Concept Animals, Newborn
Concept Neonatal Screening
Academic Article A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.
Academic Article Parental permission for pilot newborn screening research: guidelines from the NBSTRN.
Academic Article Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.
Academic Article Disclosure of genetic research results to members of a founder population.
Academic Article Vitamin D intake is inadequate in spinal muscular atrophy type I cohort: correlations with bone health.
Academic Article Seize the day: Newborn screening for SMA.
Academic Article Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.
Academic Article Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
Academic Article Motor unit number estimation in infants and children with spinal muscular atrophy.
Academic Article Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes.
Academic Article Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Academic Article Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I.
Academic Article Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Academic Article Glucose metabolism and pancreatic defects in spinal muscular atrophy.
Academic Article Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
Academic Article Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet.
Academic Article Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.
Academic Article Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives.
Academic Article NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.
Grant Newborn screening for identification & prospective followup of infants with SMA
Academic Article Survival of motor neurone protein is required for normal postnatal development of the spleen.
Academic Article Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.
Academic Article Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
Academic Article Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
Academic Article Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy.
Academic Article Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database.
Academic Article Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Search Criteria
  • Newborn
  • screening
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.