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Profound biotinidase deficiency in two asymptomatic adults.
Am J Med Genet. 1997 Nov 28;73(1):5-9. doi: 10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u.
Am J Med Genet. 1997.
PMID: 9375914
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 children.
Pomponio RJ, Norrgard KJ, Hymes J, Reynolds TR, Buck GA, Baumgartner R, Suormala T, Wolf B.
Pomponio RJ, et al. Among authors: norrgard kj.
Hum Genet. 1997 Apr;99(4):506-12. doi: 10.1007/s004390050397.
Hum Genet. 1997.
PMID: 9099842
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Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
Norrgard KJ, Pomponio RJ, Swango KL, Hymes J, Reynolds TR, Buck GA, Wolf B.
Norrgard KJ, et al.
Biochem Mol Med. 1997 Jun;61(1):22-7. doi: 10.1006/bmme.1997.2597.
Biochem Mol Med. 1997.
PMID: 9232193
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Delayed-onset profound biotinidase deficiency.
Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Baumgartner ER, Suormala T, Ramaekers VT, Coskun T, Tokatli A, Ozalp I, Hymes J.
Wolf B, et al. Among authors: norrgard kj.
J Pediatr. 1998 Feb;132(2):362-5. doi: 10.1016/s0022-3476(98)70464-0.
J Pediatr. 1998.
PMID: 9506660
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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. Online.
Norrgard KJ, Pomponio RJ, Swango KL, Hymes J, Reynolds T, Buck GA, Wolf B.
Norrgard KJ, et al.
Hum Mutat. 1998;11(5):410. doi: 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8.
Hum Mutat. 1998.
PMID: 10206677
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Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
Norrgard KJ, Pomponio RJ, Hymes J, Wolf B.
Norrgard KJ, et al.
Pediatr Res. 1999 Jul;46(1):20-7. doi: 10.1203/00006450-199907000-00004.
Pediatr Res. 1999.
PMID: 10400129
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Examination of the signal peptide region of human biotinidase using a baculovirus expression system.
Norrgard KJ, Hymes J, Wolf B.
Norrgard KJ, et al.
Mol Genet Metab. 2000 Jan;69(1):56-63. doi: 10.1006/mgme.1999.2951.
Mol Genet Metab. 2000.
PMID: 10655158
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Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
Blanton SH, Pandya A, Landa BL, Javaheri R, Xia X, Nance WE, Pomponio RJ, Norrgard KJ, Swango KL, Demirkol M, Gülden H, Coskun T, Tokatli A, Ozalp I, Wolf B.
Blanton SH, et al. Among authors: norrgard kj.
Hum Hered. 2000 Mar-Apr;50(2):102-11. doi: 10.1159/000022897.
Hum Hered. 2000.
PMID: 10799968
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