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The genotypic and phenotypic spectrum of PIGA deficiency.
Orphanet J Rare Dis. 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8.
Orphanet J Rare Dis. 2015.
PMID: 25885527
Free PMC article.
The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.
van Karnebeek CD, Houben RF, Lafek M, Giannasi W, Stockler S.
van Karnebeek CD, et al. Among authors: lafek m.
Orphanet J Rare Dis. 2012 Jul 23;7:47. doi: 10.1186/1750-1172-7-47.
Orphanet J Rare Dis. 2012.
PMID: 22824307
Free PMC article.
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Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities.
Sayson B, Popurs MA, Lafek M, Berkow R, Stockler-Ipsiroglu S, van Karnebeek CD.
Sayson B, et al. Among authors: lafek m.
Mol Genet Metab. 2015 May;115(1):1-9. doi: 10.1016/j.ymgme.2015.03.001. Epub 2015 Mar 9.
Mol Genet Metab. 2015.
PMID: 25801009
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