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Molecular Genetics and Metabolism|August 15, 1998
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiencyR J Pomponio, A Yamaguchi, S Arashima, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|April 15, 1987
Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individualsB Wolf, J B Miller, J Hymes, et al.Pediatric Research|December 13, 1997
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysisR J Pomponio, J Hymes, T R Reynolds, et al.Human Mutation|April 17, 1999
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. OnlineK J Norrgard, R J Pomponio, K L Swango, et al.Biochemical and Molecular Medicine|June 1, 1997
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United StatesK J Norrgard, R J Pomponio, K L Swango, et al.Human Genetics|April 1, 1997
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 childrenR J Pomponio, K J Norrgard, J Hymes, et al.The Journal of Biological Chemistry|March 4, 1994
Human serum biotinidase. cDNA cloning, sequence, and characterizationH Cole, T R Reynolds, J M Lockyer, et al.Analytical Biochemistry|May 15, 1984
Assay of galactosyltransferase by high-performance liquid chromatographyA J Hymes, F MullinaxAmerican Journal of Medical Genetics|January 31, 1998
Profound biotinidase deficiency in two asymptomatic adultsB Wolf, K Norrgard, R J Pomponio, et al.Journal of the American Society of Nephrology : JASN|October 1, 1996
Angiotensin in progressive renal diseases: theory and practiceT Matsusaka, J Hymes, I IchikawaPageof 68