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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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2002 | 1 |
2014 | 1 |
2016 | 1 |
2024 | 0 |
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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Eur J Hum Genet. 2016 Oct;24(10):1424-9. doi: 10.1038/ejhg.2016.65. Epub 2016 Jun 22.
Eur J Hum Genet. 2016.
PMID: 27329734
Free PMC article.
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Borsatto T, Sperb-Ludwig F, Pinto LL, Luca GR, Carvalho FL, Souza CF, Medeiros PF, Lourenço CM, Lo Filho R, Neto EC, Bernardi P, Leistner-Segal S, Schwartz IV.
Borsatto T, et al.
BMC Med Genet. 2014 Sep 1;15:96. doi: 10.1186/s12881-014-0096-3.
BMC Med Genet. 2014.
PMID: 25174816
Free PMC article.
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Seventeen novel mutations that cause profound biotinidase deficiency.
Wolf B, Jensen K, Hüner G, Demirkol M, Baykal T, Divry P, Rolland MO, Perez-Cerdá C, Ugarte M, Straussberg R, Basel-Vanagaite L, Baumgartner ER, Suormala T, Scholl S, Das AM, Schweitzer S, Pronicka E, Sykut-Cegielska J.
Wolf B, et al.
Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11. doi: 10.1016/s1096-7192(02)00149-x.
Mol Genet Metab. 2002.
PMID: 12359137
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