Authors:
POMPONIO RJ
YAMAGUCHI A
ARASHIMA S
HYMES J
WOLF B
Citation: Rj. Pomponio et al., MUTATION IN A PUTATIVE GLYCOSYLATION SITE (N489T) OF BIOTINIDASE IN THE ONLY KNOWN JAPANESE CHILD WITH BIOTINIDASE DEFICIENCY, MOLECULAR GENETICS AND METABOLISM, 64(2), 1998, pp. 152-154
Authors:
NORRGARD KJ
POMPONIO RJ
SWANGO KL
HYMES J
REYNOLDS TR
BUCK GA
WOLF B
Citation: Kj. Norrgard et al., MUTATION (Q456H) IS THE MOST COMMON-CAUSE OF PROFOUND BIOTINIDASE DEFICIENCY IN CHILDREN ASCERTAINED BY NEWBORN SCREENING IN THE UNITED-STATES, Biochemical and molecular medicine, 61(1), 1997, pp. 22-27
Authors:
POMPONIO RJ
NORRGARD KJ
HYMES J
REYNOLDS TR
BUCK GA
BAUMGARTNER R
SUORMALA T
WOLF B
Citation: Rj. Pomponio et al., ARG538 TO CYS MUTATION IN A CPG DINUCLEOTIDE OF THE HUMAN BIOTINIDASEGENE IS THE 2ND MOST COMMON-CAUSE OF PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN, Human genetics, 99(4), 1997, pp. 506-512
Authors:
POMPONIO RJ
HYMES J
REYNOLDS TR
MEYERS GA
FLEISCHHAUER K
BUCK GA
WOLF B
Citation: Rj. Pomponio et al., MUTATIONS IN THE HUMAN BIOTINIDASE GENE THAT CAUSE PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN - MOLECULAR, BIOCHEMICAL, AND CLINICAL ANALYSIS, Pediatric research, 42(6), 1997, pp. 840-848
Authors:
POMPONIO RJ
HYMES J
REYNOLDS TR
MEYERS GA
FLEISCHHAUER K
BUCK GA
WOLF B
Citation: Rj. Pomponio et al., MUTATIONS IN THE HUMAN BIOTINIDASE GENE THAT CAUSE PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN - MOLECULAR, BIOCHEMICAL, AND CLINICAL ANALYSIS, American journal of human genetics, 61(4), 1997, pp. 1508-1508
Citation: T. Matsusaka et al., ANGIOTENSIN IN PROGRESSIVE RENAL DISEASES - THEORY AND PRACTICE, Journal of the American Society of Nephrology, 7(10), 1996, pp. 2025-2043
Citation: J. Hymes et al., BIOTINYLATION OF HISTONES BY HUMAN SERUM BIOTINIDASE - ASSESSMENT OF BIOTINYL-TRANSFERASE ACTIVITY IN SERA FROM NORMAL INDIVIDUALS AND CHILDREN WITH BIOTINIDASE DEFICIENCY, Biochemical and molecular medicine, 56(1), 1995, pp. 76-83
Authors:
COLE H
REYNOLDS TR
LOCKYER JM
BUCK GA
DENSON T
SPENCE JE
HYMES J
WOLF B
Citation: H. Cole et al., HUMAN SERUM BIOTINIDASE - CDNA CLONING, SEQUENCE, AND CHARACTERIZATION, The Journal of biological chemistry, 269(9), 1994, pp. 6566-6570