J Hymes

Summary

Affiliation: Virginia Commonwealth University
Country: USA

Publications

  1. ncbi request reprint Mutations in BTD causing biotinidase deficiency
    J Hymes
    Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, Virginia 23298, USA
    Hum Mutat 18:375-81. 2001
  2. ncbi request reprint Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis
    R J Pomponio
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    Pediatr Res 42:840-8. 1997
  3. ncbi request reprint Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children
    K J Norrgard
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, USA
    Pediatr Res 46:20-7. 1999
  4. ncbi request reprint Profound biotinidase deficiency in two asymptomatic adults
    B Wolf
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    Am J Med Genet 73:5-9. 1997
  5. ncbi request reprint Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online
    K J Norrgard
    Department of Human Genetics, Medical College of Virginia Virginia Commonwealth University, Richmond, Virginia, USA
    Hum Mutat 11:410. 1998
  6. ncbi request reprint Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children
    R J Pomponio
    Department of Human Genetics, Medical College of Virginia, Richmond 23298, USA
    Hum Genet 99:506-12. 1997
  7. ncbi request reprint Examination of the signal peptide region of human biotinidase using a baculovirus expression system
    K J Norrgard
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, Virginia, 23298, USA
    Mol Genet Metab 69:56-63. 2000
  8. ncbi request reprint Human serum biotinidase. cDNA cloning, sequence, and characterization
    H Cole
    Department of Human Genetics, Medical College of Virginia Virginia Commonwealth University, Richmond 23298
    J Biol Chem 269:6566-70. 1994

Collaborators

  • B Wolf
  • G A Buck
  • K Fleischhauer
  • K J Norrgard
  • R J Pomponio
  • T R Reynolds
  • H Cole
  • T Reynolds
  • K L Swango
  • R Baumgartner
  • T Suormala
  • G A Meyers
  • J M Lockyer
  • T Denson
  • J E Spence

Detail Information

Publications8

  1. ncbi request reprint Mutations in BTD causing biotinidase deficiency
    J Hymes
    Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, Virginia 23298, USA
    Hum Mutat 18:375-81. 2001
    ..Although a preponderance of mutations causing the production of truncated BTD protein occurs in symptomatic children with profound deficiency, preliminary studies fail to demonstrate clear genotype-phenotype correlations...
  2. ncbi request reprint Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis
    R J Pomponio
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    Pediatr Res 42:840-8. 1997
    ..There are, however, no clear genotype/phenotype correlations that would allow for the prediction of the type, severity, or age of onset of symptoms...
  3. ncbi request reprint Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children
    K J Norrgard
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, USA
    Pediatr Res 46:20-7. 1999
    ..However, inasmuch as biotin treatment is inexpensive and innocuous, it is still recommended that all children with profound biotinidase deficiency be treated...
  4. ncbi request reprint Profound biotinidase deficiency in two asymptomatic adults
    B Wolf
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    Am J Med Genet 73:5-9. 1997
    ..Their lack of symptoms suggests that there are probably epigenetic factors that protect some enzyme-deficient individuals from developing symptoms. These individuals broaden the spectrum of expression of biotinidase deficiency...
  5. ncbi request reprint Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online
    K J Norrgard
    Department of Human Genetics, Medical College of Virginia Virginia Commonwealth University, Richmond, Virginia, USA
    Hum Mutat 11:410. 1998
    ..This double mutation allele (A171T and D444H) is a common cause of profound biotinidase deficience in children ascertained by newborn screening in the United States...
  6. ncbi request reprint Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children
    R J Pomponio
    Department of Human Genetics, Medical College of Virginia, Richmond 23298, USA
    Hum Genet 99:506-12. 1997
    ....
  7. ncbi request reprint Examination of the signal peptide region of human biotinidase using a baculovirus expression system
    K J Norrgard
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, Virginia, 23298, USA
    Mol Genet Metab 69:56-63. 2000
    ....
  8. ncbi request reprint Human serum biotinidase. cDNA cloning, sequence, and characterization
    H Cole
    Department of Human Genetics, Medical College of Virginia Virginia Commonwealth University, Richmond 23298
    J Biol Chem 269:6566-70. 1994
    ..Northern analysis indicated the presence of biotinidase mRNA in human heart, brain, placenta, liver, lung, skeletal muscle, kidney, and pancreas...