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Page 1
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K. Ritter AL, et al. Among authors: ackermann am. Genet Med. 2022 Jun;24(6):1227-1237. doi: 10.1016/j.gim.2022.02.005. Epub 2022 Mar 14. Genet Med. 2022. PMID: 35300924 Free PMC article.
Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry.
Chen J, Li X, Edmondson A, Meyers GD, Izumi K, Ackermann AM, Morava E, Ficicioglu C, Bennett MJ, He M. Chen J, et al. Among authors: ackermann am. Clin Chem. 2019 May;65(5):653-663. doi: 10.1373/clinchem.2018.296780. Epub 2019 Feb 15. Clin Chem. 2019. PMID: 30770376 Free PMC article.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Grand K, et al. Among authors: ackermann am. Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719864 Free PMC article.
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: ackermann am. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.
Li C, Ackermann AM, Boodhansingh KE, Bhatti TR, Liu C, Schug J, Doliba N, Han B, Cosgrove KE, Banerjee I, Matschinsky FM, Nissim I, Kaestner KH, Naji A, Adzick NS, Dunne MJ, Stanley CA, De León DD. Li C, et al. Among authors: ackermann am. Diabetes. 2017 Jul;66(7):1901-1913. doi: 10.2337/db17-0029. Epub 2017 Apr 25. Diabetes. 2017. PMID: 28442472 Free PMC article.
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