Wendy E Smith

Summary

Affiliation: Maine Medical Center
Country: USA

Publications

  1. doi request reprint Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate
    Wendy Smith
    Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME 04102, USA
    J Pediatr 162:1228-34, 1234.e1. 2013
  2. ncbi request reprint Urea cycle disorders: clinical presentation outside the newborn period
    Wendy Smith
    Maine Pediatric Specialty Group, Portland, ME 04102, USA
    Crit Care Clin 21:S9-17. 2005
  3. ncbi request reprint Sibling phenotype concordance in classical infantile Pompe disease
    Wendy E Smith
    Division of Genetics, The Barbara Bush Children s Hospital, Maine Medical Center, Portland, Maine, USA
    Am J Med Genet A 143:2493-501. 2007
  4. pmc Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients
    Regina E Ensenauer
    Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
    Am J Hum Genet 73:1027-40. 2003
  5. ncbi request reprint TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
    Deborah A McDermott
    Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA
    Pediatr Res 58:981-6. 2005

Collaborators

  • Uta Lichter-Konecki
  • Marshall Summar
  • Rani H Singh
  • Priya Sunil Kishnani
  • BRENDAN HL LEE
  • Deborah A McDermott
  • Regina E Ensenauer
  • Gail E Graham
  • Alan L Shanske
  • Jeffrey W Innis
  • Mark C Hannibal
  • Matthew Weber
  • Annick Raas-Rothschild
  • Lionel Van Maldergem
  • Robert H Spencer
  • Darrel J Waggoner
  • Craig T Basson
  • Martin G St John-Sutton
  • Michael C Bressan
  • Mary Ella Pierpont
  • Salim Aftimos
  • Fred Gilbert
  • Jie He
  • Joseph S Lee
  • Martina Brueckner
  • Rhett P Ketterling
  • D Brian Dawson
  • Adewale Adeyinka
  • Heather C Flynn
  • Alan A Alexander
  • Marie T McDonald
  • Erik C Thorland
  • Elba Simon-Fayard
  • Robin D Clark
  • Cindy Pham Lorentz
  • Syed M Jalal
  • Noralane M Lindor
  • Anita S Kulharya
  • Virginia V Michels
  • Jennifer L Goldstein

Detail Information

Publications5

  1. doi request reprint Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate
    Wendy Smith
    Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME 04102, USA
    J Pediatr 162:1228-34, 1234.e1. 2013
    ..To examine ammonia levels, pharmacokinetics, and safety of glycerol phenylbutyrate (GPB; also referred to as HPN-100) and sodium phenylbutyrate (NaPBA) in young children with urea cycle disorders (UCDs)...
  2. ncbi request reprint Urea cycle disorders: clinical presentation outside the newborn period
    Wendy Smith
    Maine Pediatric Specialty Group, Portland, ME 04102, USA
    Crit Care Clin 21:S9-17. 2005
    ..Treatment with dietary protein restriction and medications may be challenging in children...
  3. ncbi request reprint Sibling phenotype concordance in classical infantile Pompe disease
    Wendy E Smith
    Division of Genetics, The Barbara Bush Children s Hospital, Maine Medical Center, Portland, Maine, USA
    Am J Med Genet A 143:2493-501. 2007
    ..This prognostic information is vital for families with affected infants and allows for appropriate genetic counseling...
  4. pmc Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients
    Regina E Ensenauer
    Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
    Am J Hum Genet 73:1027-40. 2003
    ..Although the present series of patients was ascertained because of some overlapping features with DG/VCF syndromes, the microduplication of 22q11.2 appears to be a new syndrome...
  5. ncbi request reprint TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
    Deborah A McDermott
    Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA
    Pediatr Res 58:981-6. 2005
    ..Accordingly, TBX5 genotyping has high sensitivity and specificity for HOS if stringent diagnostic criteria are used in assigning the clinical diagnosis...