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Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis. 2023 Mar;46(2):300-312. doi: 10.1002/jimd.12589. Epub 2023 Jan 29.
J Inherit Metab Dis. 2023.
PMID: 36651831
Free PMC article.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C.
Poskanzer SA, et al.
Am J Med Genet A. 2021 Jan;185(1):213-218. doi: 10.1002/ajmg.a.61914. Epub 2020 Oct 12.
Am J Med Genet A. 2021.
PMID: 33044030
Free PMC article.
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p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.
Yi F, Poskanzer SA, Myers CT, Thies J, Collins CJ, Dayuha R, Duong P, Houwen R, Hahn SH.
Yi F, et al. Among authors: poskanzer sa.
JIMD Rep. 2020 May 19;54(1):32-36. doi: 10.1002/jmd2.12127. eCollection 2020 Jul.
JIMD Rep. 2020.
PMID: 32685348
Free PMC article.
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The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Poskanzer SA, Thies J, Collins CJ, Myers CT, Dayuha R, Duong P, Yi F, Chang IJ, Ochs HD, Torgerson TR, Hahn SH.
Poskanzer SA, et al.
Mol Genet Genomic Med. 2020 Apr;8(4):e1172. doi: 10.1002/mgg3.1172. Epub 2020 Feb 17.
Mol Genet Genomic Med. 2020.
PMID: 32067425
Free PMC article.
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Feeding difficulty and gastrostomy tube placement in infants with Down syndrome.
Poskanzer SA, Hobensack VL, Ciciora SL, Santoro SL.
Poskanzer SA, et al.
Eur J Pediatr. 2020 Jun;179(6):909-917. doi: 10.1007/s00431-020-03591-x. Epub 2020 Jan 27.
Eur J Pediatr. 2020.
PMID: 31984440
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