B Wolf

Summary

Affiliation: Virginia Commonwealth University
Country: USA

Publications

  1. 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
  2. ncbi request reprint Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene
    R J Pomponio
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    Hum Mol Genet 6:739-45. 1997
  3. ncbi request reprint Structure of the human biotinidase gene
    H C Knight
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    Mamm Genome 9:327-30. 1998
  4. 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
  5. 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
  6. ncbi request reprint Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency
    R J Pomponio
    Department of Human Genetics, College of Virginia Virginia Commonwealth University, Richmond 23298 0033, USA
    Nat Genet 11:96-8. 1995
  7. 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
  8. 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
  9. 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
  10. ncbi request reprint Localization of serum biotinidase (BTD) to human chromosome 3 in band p25
    H Cole
    Department of Human Genetics, Medical College of Virginia Virginia Commonwealth University, Richmond 23298
    Genomics 22:662-3. 1994

Collaborators

Detail Information

Publications21

  1. 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...
  2. ncbi request reprint Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene
    R J Pomponio
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    Hum Mol Genet 6:739-45. 1997
    ..The preferential usage of the downstream splice site is not consistent with the 5'-3' scanning model, but is consistent with the exon definition model of RNA splicing...
  3. ncbi request reprint Structure of the human biotinidase gene
    H C Knight
    Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA
    Mamm Genome 9:327-30. 1998
    ..The region from nt -600 to +400 has features of a CpG island and resembles a housekeeping gene promoter. The structure and sequence of this gene are useful for identifying and characterizing mutations that cause biotinidase deficiency...
  4. 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...
  5. 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
    ....
  6. ncbi request reprint Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency
    R J Pomponio
    Department of Human Genetics, College of Virginia Virginia Commonwealth University, Richmond 23298 0033, USA
    Nat Genet 11:96-8. 1995
    ..This mutation appears to be a common cause of biotinidase deficiency in symptomatic children...
  7. 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...
  8. 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...
  9. 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...
  10. ncbi request reprint Localization of serum biotinidase (BTD) to human chromosome 3 in band p25
    H Cole
    Department of Human Genetics, Medical College of Virginia Virginia Commonwealth University, Richmond 23298
    Genomics 22:662-3. 1994
  11. ncbi request reprint Conservation of biotindase in mammals and identification of the putative biotinidase gene in Drosophila melanogaster
    K L Swango
    Department of Human Genetics, Medical College of Virigina of Virginia Commonwealth University, Richmond, Virginia, USA
    Mol Genet Metab 74:492-9. 2001
    ..Many of the missense mutations that cause biotinidase deficiency are located in these conserved regions of the mammalian and Drosophila biotinidases...
  12. 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
    ....
  13. ncbi request reprint Lipoamidase activity in human serum is due to biotinidase
    C L Garganta
    Department of Human Genetics, Medical College of Virginia, Richmond 23298
    Clin Chim Acta 189:313-25. 1990
    ..Moreover, since the Km of L-pABA hydrolysis by serum is high, it is unlikely that lipoic acid is recycled in the serum by biotinidase...
  14. ncbi request reprint Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
    K L Swango
    Department of Human Genetics, Medical College of Virginia at Virginia Commonwealth University, Richmond 23298, USA
    Hum Genet 102:571-5. 1998
    ..The D444H mutation in one allele in combination with a mutation for profound deficiency in the other allele is the common cause of partial biotinidase deficiency...
  15. 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...
  16. ncbi request reprint Biotinidase deficiency: a novel vitamin recycling defect
    B Wolf
    J Inherit Metab Dis 8:53-8. 1985
    ..We also speculate about two exciting areas currently being investigated: the localization of action biotinidase, and the possible role of the enzyme as a binding or carrier protein for biotin...
  17. ncbi request reprint Seventeen novel mutations that cause profound biotinidase deficiency
    B Wolf
    Division of Research, Department of Pediatrics, Connecticut Children s Medical Center, University of Connecticut School of Medicine, 282 Washington Street, Hartford, CT 06106, USA
    Mol Genet Metab 77:108-11. 2002
    ..These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined...
  18. ncbi request reprint [Results of molecular diagnosis in 30 Austrian families with familial adenomatous polyposis]
    T Filipitsch
    , , Osterreich
    Wien Klin Wochenschr 113:446-50. 2001
    ..Our method of genetic risk estimation is an important step in Austria towards earlier diagnosis and well-timed therapy management, and helps to exclude persons at risk who are genetically healthy from the laborious screening program...
  19. ncbi request reprint Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies
    A Laszlo
    University of Szeged, A Szent Györgyi Medical Centre, Budapest, Hungary
    J Inherit Metab Dis 26:693-8. 2003
    ..The incidence of biotinidase deficiency in Hungary is more than twice that observed in a worldwide survey. These results indicate that newborn screening in Hungary is effective and warranted...
  20. ncbi request reprint Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia
    B Wolf
    Department of Pediatrics, Connecticut Children s Medical Center, 282 Washington Street, Hartford, CT 06106, USA
    J Inherit Metab Dis 26:805-9. 2003
    ..GSD type Ia should be considered in children with markedly elevated serum biotinidase activity...
  21. ncbi request reprint Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases
    T Baykal
    Children s Hospital, Nutrition and Metabolism Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    J Inherit Metab Dis 28:903-12. 2005
    ..Careful evaluation of these untreated individuals with BD is important to obtain additional information about the natural history of this disorder and may provide clues to phenotype-genotype relationships and treatment regimes...