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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1995 | 1 |
1996 | 1 |
1997 | 2 |
1998 | 2 |
1999 | 1 |
2024 | 0 |
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Human biotinidase isn't just for recycling biotin.
J Nutr. 1999 Feb;129(2S Suppl):485S-489S. doi: 10.1093/jn/129.2.485S.
J Nutr. 1999.
PMID: 10064314
Review.
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.
J Pediatr. 1998 Feb;132(2):362-5. doi: 10.1016/s0022-3476(98)70464-0.
J Pediatr. 1998.
PMID: 9506660
Item in Clipboard
Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B.
Pomponio RJ, et al.
Nat Genet. 1995 Sep;11(1):96-8. doi: 10.1038/ng0995-96.
Nat Genet. 1995.
PMID: 7550325
Item in Clipboard
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.
Hum Genet. 1997 Apr;99(4):506-12. doi: 10.1007/s004390050397.
Hum Genet. 1997.
PMID: 9099842
Item in Clipboard
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.
Pomponio RJ, Narasimhan V, Reynolds TR, Buck GA, Povirk LF, Wolf B.
Pomponio RJ, et al.
Hum Mol Genet. 1996 Oct;5(10):1657-61. doi: 10.1093/hmg/5.10.1657.
Hum Mol Genet. 1996.
PMID: 8894703
Item in Clipboard
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.
Pomponio RJ, Yamaguchi A, Arashima S, Hymes J, Wolf B.
Pomponio RJ, et al.
Mol Genet Metab. 1998 Jun;64(2):152-4. doi: 10.1006/mgme.1998.2706.
Mol Genet Metab. 1998.
PMID: 9705240
Item in Clipboard
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.
Pomponio RJ, Reynolds TR, Mandel H, Admoni O, Melone PD, Buck GA, Wolf B.
Pomponio RJ, et al.
Hum Mol Genet. 1997 May;6(5):739-45. doi: 10.1093/hmg/6.5.739.
Hum Mol Genet. 1997.
PMID: 9158148
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