Liu N - Search Results

1

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Among authors: liu n. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.

2

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT, Glinton KE, Liu N, Xiao J, Yang Y, Reid Sutton V, Elsea SH. Alaimo JT, et al. Among authors: liu n. Genet Med. 2020 Sep;22(9):1560-1566. doi: 10.1038/s41436-020-0827-0. Epub 2020 May 22. Genet Med. 2020. PMID: 32439973 Free PMC article.

3

Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.

Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Pillai NR, et al. Among authors: liu n. Am J Med Genet A. 2020 Nov;182(11):2781-2787. doi: 10.1002/ajmg.a.61851. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32909658

4

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.

Liu N, Xiao J, Gijavanekar C, Pappan KL, Glinton KE, Shayota BJ, Kennedy AD, Sun Q, Sutton VR, Elsea SH. Liu N, et al. JAMA Netw Open. 2021 Jul 1;4(7):e2114155. doi: 10.1001/jamanetworkopen.2021.14155. JAMA Netw Open. 2021. PMID: 34251446 Free PMC article.

5

Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database.

Ficicioglu C, Liu N, Sun Q, Burdett A, Hata A, Porter M, Sutton VR. Ficicioglu C, et al. Among authors: liu n. Mol Genet Metab. 2022 Jan;135(1):35-41. doi: 10.1016/j.ymgme.2021.12.007. Epub 2021 Dec 18. Mol Genet Metab. 2022. PMID: 34980542 Free article.

6

Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.

Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls-Castillo BL, Liu N, Soler-Alfonso C. Tallis E, et al. Among authors: liu n. JIMD Rep. 2022 May 22;63(4):309-315. doi: 10.1002/jmd2.12304. eCollection 2022 Jul. JIMD Rep. 2022. PMID: 35822097 Free PMC article.

7

Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn.

Glinton KE, Minard CG, Liu N, Sun Q, Elsea SH, Burrage LC, Nagamani SCS. Glinton KE, et al. Among authors: liu n. Mol Genet Metab. 2023 Nov;140(3):107699. doi: 10.1016/j.ymgme.2023.107699. Epub 2023 Sep 11. Mol Genet Metab. 2023. PMID: 37717413 Free PMC article.

8

Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.

DiFalco CR, Gijavanekar C, Wang Y, Grace AN, Machol K, Emrick L, Liu N, Mizerik E, Mackay L, Dai H, Vossaert L, Xia F, Elsea SH, Scaglia F. DiFalco CR, et al. Among authors: liu n. Mol Genet Metab. 2025 Mar;144(3):109009. doi: 10.1016/j.ymgme.2024.109009. Epub 2024 Dec 30. Mol Genet Metab. 2025. PMID: 39787888

9

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Pillai NR, Liu N, Li X, Li X, Ahrens-Nicklas R, Adang L, Eisengart JB, Bronken G, Gupta A, Lund TC, Whitley CB, Elsea SH, Orchard PJ. Pillai NR, et al. Among authors: liu n. Commun Med (Lond). 2025 Jan 9;5(1):12. doi: 10.1038/s43856-024-00703-8. Commun Med (Lond). 2025. PMID: 39789203 Free PMC article.

10

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: liu n. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.

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