Louis J Elsas

Summary

Affiliation: Emory University
Country: USA

Publications

  1. ncbi request reprint Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria
    Rani H Singh
    Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 6:90-5. 2004
  2. ncbi request reprint Cancer genetics in primary care. When is genetic screening an option and when is it the standard of care?
    L J Elsas
    Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Postgrad Med 107:191-4, 197-200, 205-8. 2000
  3. ncbi request reprint The molecular biology of galactosemia
    L J Elsas
    Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 1:40-8. 1998
  4. ncbi request reprint Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia
    L J Elsas
    Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Mol Genet Metab 72:297-305. 2001
  5. ncbi request reprint Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase
    Louis J Elsas
    Department of Pediatrics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Mol Genet Metab 76:287-96. 2002
  6. pmc Galactose toxicity in animals
    Kent Lai
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    IUBMB Life 61:1063-74. 2009
  7. ncbi request reprint Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air
    Deborah S Barbouth
    Department of Pediatrics, University of Miami, Miami, Florida 33136, USA
    Pediatr Res 62:720-4. 2007
  8. ncbi request reprint Verbal dyspraxia and galactosemia
    Amy Leigh Webb
    Emory University Graduate School of Arts and Sciences, Department of Biological and Biomedical Sciences, Division of Nutrition and Health Sciences, Atlanta, Georgia 30322, USA
    Pediatr Res 53:396-402. 2003
  9. ncbi request reprint Prevention of a molecular misdiagnosis in galactosemia
    Deborah Barbouth
    Dr John T Macdonald Foundation Center for Medical Genetics, Department of Pediatrics and Biochemistry, Miller School of Medicine, University of Miami, FL 33136, USA
    Genet Med 8:178-82. 2006

Collaborators

  • K Lai
  • Rani H Singh
  • Warren D Kruger
  • Deborah S Barbouth
  • Deborah Barbouth
  • Amy Leigh Webb
  • Virginia H Carver
  • Stanley Konopka
  • J James D Wilkinson
  • Darcy L Velazquez
  • Tatiana Slepak
  • Helene Klapper
  • Mary Jane Kennedy

Detail Information

Publications9

  1. ncbi request reprint Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria
    Rani H Singh
    Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 6:90-5. 2004
    ..For treatment of cystathionine beta-synthase (CbetaS) deficiency, we determined the effect of betaine (N,N,N-trimethylglycine) therapy and examined the genotype-phenotype relationships to betaine...
  2. ncbi request reprint Cancer genetics in primary care. When is genetic screening an option and when is it the standard of care?
    L J Elsas
    Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Postgrad Med 107:191-4, 197-200, 205-8. 2000
    ..The ultimate goal is to reduce cancer morbidity and mortality through interventions that decrease cancer risk or increase early detection...
  3. ncbi request reprint The molecular biology of galactosemia
    L J Elsas
    Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 1:40-8. 1998
    ..In this review, we discuss the structural biology of these mutations as they affect both the GALT enzyme and patient outcome...
  4. ncbi request reprint Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia
    L J Elsas
    Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Mol Genet Metab 72:297-305. 2001
    ..The -119 to -116delGTCA reduces hGALT transcription resulting in reduced GALT activity in the Duarte allele...
  5. ncbi request reprint Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase
    Louis J Elsas
    Department of Pediatrics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Mol Genet Metab 76:287-96. 2002
    ..One nuclear protein of the b/HLH/LZ family is necessary, but not sufficient for the carbohydrate response...
  6. pmc Galactose toxicity in animals
    Kent Lai
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
    IUBMB Life 61:1063-74. 2009
    ..Additionally, we update the reader about research progress on animal models, as well as advances in clinical management and therapies of these disorders...
  7. ncbi request reprint Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air
    Deborah S Barbouth
    Department of Pediatrics, University of Miami, Miami, Florida 33136, USA
    Pediatr Res 62:720-4. 2007
    ..It has potential utility for both preventing acute neonatal toxicity and determining the mechanisms producing long-term complications such as ovarian failure, dyspraxia, ataxia, and tremors...
  8. ncbi request reprint Verbal dyspraxia and galactosemia
    Amy Leigh Webb
    Emory University Graduate School of Arts and Sciences, Department of Biological and Biomedical Sciences, Division of Nutrition and Health Sciences, Atlanta, Georgia 30322, USA
    Pediatr Res 53:396-402. 2003
    ..We conclude that total body oxidation of galactose to CO(2) in expired air reflects genotype and that this breath test is a sensitive predictor of verbal dyspraxia in patients with galactosemia...
  9. ncbi request reprint Prevention of a molecular misdiagnosis in galactosemia
    Deborah Barbouth
    Dr John T Macdonald Foundation Center for Medical Genetics, Department of Pediatrics and Biochemistry, Miller School of Medicine, University of Miami, FL 33136, USA
    Genet Med 8:178-82. 2006
    ..This method is problematic when used in families of Ashkenazi Jewish descent...