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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 2 |
2015 | 4 |
2016 | 2 |
2024 | 0 |
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6 results
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Page 1
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16.
Mol Genet Metab. 2014.
PMID: 24797656
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B.
Jay AM, et al.
Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21.
Genet Med. 2015.
PMID: 25144890
Free article.
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Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi FA, Al-Shamsi A, Hertecant JL, Al-Hamad SM, Souid AK.
Al-Jasmi FA, et al.
JIMD Rep. 2016;28:127-135. doi: 10.1007/8904_2015_512. Epub 2015 Nov 21.
JIMD Rep. 2016.
PMID: 26589311
Free PMC article.
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Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
Karaca M, Özgül RK, Ünal Ö, Yücel-Yılmaz D, Kılıç M, Hişmi B, Tokatlı A, Coşkun T, Dursun A, Sivri HS.
Karaca M, et al.
Eur J Pediatr. 2015 Aug;174(8):1077-84. doi: 10.1007/s00431-015-2509-5. Epub 2015 Mar 11.
Eur J Pediatr. 2015.
PMID: 25754625
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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA.
Gannavarapu S, et al.
Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31.
Mol Genet Metab. 2015.
PMID: 26361991
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Forty-eight novel mutations causing biotinidase deficiency.
Procter M, Wolf B, Mao R.
Procter M, et al.
Mol Genet Metab. 2016 Mar;117(3):369-72. doi: 10.1016/j.ymgme.2016.01.002. Epub 2016 Jan 12.
Mol Genet Metab. 2016.
PMID: 26810761
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