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Page 1
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
J Inherit Metab Dis. 2022 Sep;45(5):969-980. doi: 10.1002/jimd.12527. Epub 2022 Jun 30.
J Inherit Metab Dis. 2022.
PMID: 35716054
Free PMC article.
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA; University of Washington Center for Mendelian Genomics (UW-CMG); Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C.
Alsharhan H, et al. Among authors: engelhardt nm.
J Inherit Metab Dis. 2021 Jul;44(4):987-1000. doi: 10.1002/jimd.12367. Epub 2021 Mar 1.
J Inherit Metab Dis. 2021.
PMID: 33583022
Free PMC article.
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Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Priestley JRC, Adang LA, Drewes Williams S, Lichter-Konecki U, Menello C, Engelhardt NM, DiPerna JC, DiBoscio B, Ahrens-Nicklas RC, Edmondson AC, Reynoso Santos FJ, Ficicioglu C.
Priestley JRC, et al. Among authors: engelhardt nm.
Int J Neonatal Screen. 2022 Mar 23;8(2):24. doi: 10.3390/ijns8020024.
Int J Neonatal Screen. 2022.
PMID: 35466195
Free PMC article.
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Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease.
Boerio ML, Engelhardt NM, Cuddapah S, Gold JI, Marin IC, Pinard A, Guo D, Prakash SK, Milewicz DM.
Boerio ML, et al. Among authors: engelhardt nm.
Circ Genom Precis Med. 2022 Dec;15(6):e003707. doi: 10.1161/CIRCGEN.122.003707. Epub 2022 Nov 9.
Circ Genom Precis Med. 2022.
PMID: 36350761
Free PMC article.
No abstract available.
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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD.
Priestley JRC, et al. Among authors: engelhardt nm.
Mol Genet Metab Rep. 2022 Nov 16;33:100931. doi: 10.1016/j.ymgmr.2022.100931. eCollection 2022 Dec.
Mol Genet Metab Rep. 2022.
PMID: 36420423
Free PMC article.
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