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Molecular Genetics and Metabolism|March 18, 2000
Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidaseK L Swango, J Hymes, P Brown, et al.
Pediatric Research|July 10, 1999
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic childrenK J Norrgard, R J Pomponio, J Hymes, et al.
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.
Gesundheitswesen (Bundesverband Der Arzte Des Offentlichen Gesundheitsdienstes (Germany))|June 6, 2000
[The physician's image 2000--requirements of education]K Fleischhauer
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.
Anatomy and Embryology|January 1, 1984
Morphological characteristics of neocortical laminae when studied in tangential semithin sections through the visual cortex of the rabbitC Schmolke, K Fleischhauer
Anatomy and Embryology|December 2, 1977
A pattern formed by preferential orientation of tangential fibres in layer I of the rabbit's cerebral cortexK Fleischhauer, A Laube
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.
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