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Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).
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
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.
Segal E, Pedro H, Valdez-Gonzalez K, Parisotto S, Gliksman F, Thompson S, Sabri J, Fertig E.
Segal E, et al. Among authors: valdez gonzalez k.
Pediatr Neurol. 2016 Nov;64:66-71. doi: 10.1016/j.pediatrneurol.2016.06.019. Epub 2016 Jul 1.
Pediatr Neurol. 2016.
PMID: 27726903
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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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Newborn Screening for Gaucher Disease: The New Jersey Experience.
Menello C, Pressley S, Steffensen M, Schmidt S, Pedro H, Jethva R, Valdez-Gonzalez K, Adams DJ, Gupta P, King LT, Velinov M, Anderson S, Bizargity P, Pletcher B, Tuite A, Kresge C, Day-Salvatore DL, Kuehl R, Ficicioglu C.
Menello C, et al. Among authors: valdez gonzalez k.
Int J Neonatal Screen. 2025 May 2;11(2):34. doi: 10.3390/ijns11020034.
Int J Neonatal Screen. 2025.
PMID: 40407517
Free PMC article.
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