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Results: 1-13 |
Results: 13
MUTATION IN A PUTATIVE GLYCOSYLATION SITE (N489T) OF BIOTINIDASE IN THE ONLY KNOWN JAPANESE CHILD WITH BIOTINIDASE DEFICIENCY
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
DELAYED-ONSET PROFOUND BIOTINIDASE DEFICIENCY
Authors: WOLF B POMPONIO RJ NORRGARD KJ LOTT IT BAUMGARTNER ER SUORMALA T RAMAEKERS VT COSKUN T TOKATLI A OZALP I HYMES J
Citation: B. Wolf et al., DELAYED-ONSET PROFOUND BIOTINIDASE DEFICIENCY, The Journal of pediatrics, 132(2), 1998, pp. 362-365
MUTATION (Q456H) IS THE MOST COMMON-CAUSE OF PROFOUND BIOTINIDASE DEFICIENCY IN CHILDREN ASCERTAINED BY NEWBORN SCREENING IN THE UNITED-STATES
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
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
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
PROFOUND BIOTINIDASE DEFICIENCY IN 2 ASYMPTOMATIC ADULTS
Authors: WOLF B NORRGARD K POMPONIO RJ MOCK DM MCVOY JRS FLEISCHHAUER K SHAPIRO S BLITZER MG HYMES J
Citation: B. Wolf et al., PROFOUND BIOTINIDASE DEFICIENCY IN 2 ASYMPTOMATIC ADULTS, American journal of medical genetics, 73(1), 1997, pp. 5-9
MUTATIONS IN THE HUMAN BIOTINIDASE GENE THAT CAUSE PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN - MOLECULAR, BIOCHEMICAL, AND CLINICAL ANALYSIS
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
MUTATIONS IN THE HUMAN BIOTINIDASE GENE THAT CAUSE PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN - MOLECULAR, BIOCHEMICAL, AND CLINICAL ANALYSIS
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
ANGIOTENSIN IN PROGRESSIVE RENAL DISEASES - THEORY AND PRACTICE
Authors: MATSUSAKA T HYMES J ICHIKAWA I
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
BIOTINIDASE AND ITS ROLES IN BIOTIN METABOLISM
Authors: HYMES J WOLF B
Citation: J. Hymes et B. Wolf, BIOTINIDASE AND ITS ROLES IN BIOTIN METABOLISM, Clinica chimica acta, 255(1), 1996, pp. 1-11
BIOTINYLATION OF HISTONES BY HUMAN SERUM BIOTINIDASE - ASSESSMENT OF BIOTINYL-TRANSFERASE ACTIVITY IN SERA FROM NORMAL INDIVIDUALS AND CHILDREN WITH BIOTINIDASE DEFICIENCY
Authors: HYMES J FLEISCHHAUER K WOLF B
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
BIOTINYLATION OF BIOTINIDASE FOLLOWING INCUBATION WITH BIOCYTIN
Authors: HYMES J FLEISCHHAUER K WOLF B
Citation: J. Hymes et al., BIOTINYLATION OF BIOTINIDASE FOLLOWING INCUBATION WITH BIOCYTIN, Clinica chimica acta, 233(1-2), 1995, pp. 39-45
HUMAN SERUM BIOTINIDASE - CDNA CLONING, SEQUENCE, AND CHARACTERIZATION
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
MOLECULAR CHARACTERIZATION OF HUMAN BIOTINIDASE
Authors: COLE H REYNOLDS TR BUCK GA LOCKYER J DENSON T SPENCE EJ HYMES J WOLF B
Citation: H. Cole et al., MOLECULAR CHARACTERIZATION OF HUMAN BIOTINIDASE, American journal of human genetics, 53(3), 1993, pp. 895-895
Risultati: 1-13 |