Wendy E Smith
Affiliation: Maine Medical Center
- Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrateWendy 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)...
- Urea cycle disorders: clinical presentation outside the newborn periodWendy 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...
- Sibling phenotype concordance in classical infantile Pompe diseaseWendy 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...
- Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patientsRegina 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...
- TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeDeborah 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...