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Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.
Pediatr Neurol. 2016 Nov;64:66-71. doi: 10.1016/j.pediatrneurol.2016.06.019. Epub 2016 Jul 1.
Pediatr Neurol. 2016.
PMID: 27726903
Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).
Gupta S, Schwab M, Valdez-Gonzalez K, Segal E.
Gupta S, et al. Among authors: valdez gonzalez k.
Eur J Med Genet. 2020 Sep;63(9):103970. doi: 10.1016/j.ejmg.2020.103970. Epub 2020 Jun 10.
Eur J Med Genet. 2020.
PMID: 32531460
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Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.
Cohen JL, Burfield J, Valdez-Gonzalez K, Samuels A, Stefanatos AK, Yudkoff M, Pedro H, Ficicioglu C.
Cohen JL, et al. Among authors: valdez gonzalez k.
Orphanet J Rare Dis. 2019 Aug 14;14(1):198. doi: 10.1186/s13023-019-1129-y.
Orphanet J Rare Dis. 2019.
PMID: 31412917
Free PMC article.
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