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Neurology. Clinical Practice
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February 13, 2018
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder
Barry Wolf
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 23, 2016
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening
Barry Wolf
Molecular Genetics and Metabolism
|
September 10, 2005
Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization
Barry Wolf, Kevin Jensen
Molecular Genetics and Metabolism
|
July 17, 2007
Three dimensional structure of human biotinidase: computer modeling and functional correlations
Kirit Pindolia, Kevin Jensen, Barry Wolf
Human Mutation
|
June 18, 2010
Analysis of mutations causing biotinidase deficiency
Kirit Pindolia, Megan Jordan, Barry Wolf
JIMD Reports
|
February 22, 2017
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency
Patrick Ferreira, Alicia Chan, Barry Wolf
Molecular Genetics and Metabolism
|
January 27, 2016
Forty-eight novel mutations causing biotinidase deficiency
Melinda Procter, Barry Wolf, Rong Mao
The Journal of Pediatrics
|
February 28, 2002
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
Barry Wolf, Robert Spencer, Tucker Gleason
Molecular Genetics and Metabolism
|
April 3, 2004
Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase
Christine M Stanley, Jeanne Hymes, Barry Wolf
Molecular Genetics and Metabolism Reports
|
October 19, 2016
Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice
Christian Brigolin, Nathan McKenty, Kirit Pindolia, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 46) with videos related to
Sort By:
Page
of 5
Neurology. Clinical Practice
|
February 13, 2018
"Think metabolic" in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder
Barry Wolf
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 23, 2016
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening
Barry Wolf
Molecular Genetics and Metabolism
|
September 10, 2005
Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization
Barry Wolf, Kevin Jensen
Molecular Genetics and Metabolism
|
July 17, 2007
Three dimensional structure of human biotinidase: computer modeling and functional correlations
Kirit Pindolia, Kevin Jensen, Barry Wolf
Human Mutation
|
June 18, 2010
Analysis of mutations causing biotinidase deficiency
Kirit Pindolia, Megan Jordan, Barry Wolf
JIMD Reports
|
February 22, 2017
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency
Patrick Ferreira, Alicia Chan, Barry Wolf
Molecular Genetics and Metabolism
|
January 27, 2016
Forty-eight novel mutations causing biotinidase deficiency
Melinda Procter, Barry Wolf, Rong Mao
The Journal of Pediatrics
|
February 28, 2002
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
Barry Wolf, Robert Spencer, Tucker Gleason
Molecular Genetics and Metabolism
|
April 3, 2004
Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase
Christine M Stanley, Jeanne Hymes, Barry Wolf
Molecular Genetics and Metabolism Reports
|
October 19, 2016
Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice
Christian Brigolin, Nathan McKenty, Kirit Pindolia, et al.
Page
of 5