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Page 1
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.
J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26.
J Pediatr. 2018.
PMID: 30057141
Review.
Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.
Pollak RM, Murphy MM, Epstein MP, Zwick ME, Klaiman C, Saulnier CA; Emory 3q29 Project; Mulle JG.
Pollak RM, et al.
Mol Autism. 2019 Jul 16;10:30. doi: 10.1186/s13229-019-0281-5. eCollection 2019.
Mol Autism. 2019.
PMID: 31346402
Free PMC article.
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Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
Hall PL, Sanchez R, Hagar AF, Jerris SC, Wittenauer A, Wilcox WR.
Hall PL, et al. Among authors: sanchez r.
Int J Neonatal Screen. 2020 Mar;6(1):2. doi: 10.3390/ijns6010002. Epub 2020 Jan 14.
Int J Neonatal Screen. 2020.
PMID: 32064362
Free PMC article.
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Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
Sanchez RL, Yan J, Richards S, Mierau G, Wartchow EP, Collins CD, Shankar SP.
Sanchez RL, et al.
Am J Ophthalmol Case Rep. 2016 Aug 27;4:50-53. doi: 10.1016/j.ajoc.2016.07.005. eCollection 2016 Dec.
Am J Ophthalmol Case Rep. 2016.
PMID: 29503925
Free PMC article.
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