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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 9
1998 4
1999 4
2000 5
2001 10
2002 7
2003 3
2004 3
2005 13
2006 7
2007 5
2008 2
2009 3
2010 6
2011 5
2012 4
2013 5
2014 12
2015 11
2016 9
2017 5
2018 13
2019 11
2020 10
2021 15
2022 13
2023 8

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183 results

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Page 1
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Duan R, et al. Among authors: freeze hh. J Inherit Metab Dis. 2023 Sep 15. doi: 10.1002/jimd.12679. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37711075
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. Among authors: freeze hh. J Inherit Metab Dis. 2023 Aug 4. doi: 10.1002/jimd.12667. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37540500
Metabolic clogging of mannose triggers dNTP loss and genomic instability in human cancer cells.
Harada Y, Mizote Y, Suzuki T, Hirayama A, Ikeda S, Nishida M, Hiratsuka T, Ueda A, Imagawa Y, Maeda K, Ohkawa Y, Murai J, Freeze HH, Miyoshi E, Higashiyama S, Udono H, Dohmae N, Tahara H, Taniguchi N. Harada Y, et al. Among authors: freeze hh. Elife. 2023 Jul 18;12:e83870. doi: 10.7554/eLife.83870. Elife. 2023. PMID: 37461317 Free PMC article.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. Dang Do AN, et al. Among authors: freeze hh. J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36719165 Free PMC article.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M. Alharbi H, et al. Among authors: freeze hh. 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.
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ, Ng BG, Jennions E, Blomqvist M, Sandqvist Wiklund A, Hedberg-Oldfors C, Gonzalez CR, Freeze HH, Ygberg S, Eklund EA. Xia ZJ, et al. Among authors: freeze hh. JIMD Rep. 2022 Sep 21;64(1):79-89. doi: 10.1002/jmd2.12338. eCollection 2023 Jan. JIMD Rep. 2022. PMID: 36636598 Free PMC article.
GLUT1 is a highly efficient L-fucose transporter.
Ng BG, Sosicka P, Xia Z, Freeze HH. Ng BG, et al. Among authors: freeze hh. J Biol Chem. 2023 Jan;299(1):102738. doi: 10.1016/j.jbc.2022.102738. Epub 2022 Nov 22. J Biol Chem. 2023. PMID: 36423686 Free PMC article.
Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells.
Hetz R, Magaway C, Everett J, Li L, Willard BB, Freeze HH, He P. Hetz R, et al. Among authors: freeze hh. Biochem Biophys Res Commun. 2022 Dec 3;632:165-172. doi: 10.1016/j.bbrc.2022.09.100. Epub 2022 Oct 2. Biochem Biophys Res Commun. 2022. PMID: 36209585 Free PMC article.
183 results