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The Journal of Pediatrics|February 28, 2002
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiencyBarry Wolf, Robert Spencer, Tucker Gleason
Ear, Nose, & Throat Journal|April 4, 2006
A rare case of rhabdomyoma of the larynx causing airway obstructionKevin Jensen, Keith Swartz
Molecular Genetics and Metabolism|April 3, 2004
Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidaseChristine M Stanley, Jeanne Hymes, Barry Wolf
The Journal of Pediatrics|March 27, 2007
Hearing loss in biotinidase deficiency: genotype-phenotype correlationHatice Serap Kalkanoğlu Sivri, Gülsüm Aydan Genç, Ayşegül Tokatli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2010
Technical standards and guidelines for the diagnosis of biotinidase deficiencyTina M Cowan, Miriam G Blitzer, Barry Wolf, et al.
Molecular Genetics and Metabolism Reports|December 28, 2020
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adultsElizabeth Kellom, Kimberly Stepien, Gregory Rice, et al.
G3 (Bethesda, Md.)|April 4, 2013
The Biotinidase Gene Variants Registry: A Paradigm Public DatabaseMelinda Procter, Barry Wolf, David K Crockett, et al.
Brain Research. Molecular Brain Research|January 27, 2004
Nogo 3'-untranslated region CAA insertion: failure to replicate association with schizophrenia and demonstration of marked population difference in frequency of the insertionJonathan Covault, Jessica Lee, Kevin Jensen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2017
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and GenomicsErin T Strovel, Tina M Cowan, Anna I Scott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2017
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and GenomicsErin T Strovel, Tina M Cowan, Anna I Scott, et al.
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