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2000 1
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53 results

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Page 1
Mannose metabolism: more than meets the eye.
Sharma V, Ichikawa M, Freeze HH. Sharma V, et al. Biochem Biophys Res Commun. 2014 Oct 17;453(2):220-8. doi: 10.1016/j.bbrc.2014.06.021. Epub 2014 Jun 12. Biochem Biophys Res Commun. 2014. PMID: 24931670 Free PMC article. Review.
Golgi glycosylation and human inherited diseases.
Freeze HH, Ng BG. Freeze HH, et al. Cold Spring Harb Perspect Biol. 2011 Sep 1;3(9):a005371. doi: 10.1101/cshperspect.a005371. Cold Spring Harb Perspect Biol. 2011. PMID: 21709180 Free PMC article. Review.
Achondrogenesis type 1A--from mouse to human.
Freeze HH. Freeze HH. N Engl J Med. 2010 Jan 21;362(3):266-7. doi: 10.1056/NEJMe0911455. N Engl J Med. 2010. PMID: 20089978 No abstract available.
Glycosylation diseases: quo vadis?
Schachter H, Freeze HH. Schachter H, et al. Biochim Biophys Acta. 2009 Sep;1792(9):925-30. doi: 10.1016/j.bbadis.2008.11.002. Epub 2008 Nov 13. Biochim Biophys Acta. 2009. PMID: 19061954 Free PMC article. Review.
Neurology of inherited glycosylation disorders.
Freeze HH, Eklund EA, Ng BG, Patterson MC. Freeze HH, et al. Lancet Neurol. 2012 May;11(5):453-66. doi: 10.1016/S1474-4422(12)70040-6. Lancet Neurol. 2012. PMID: 22516080 Free PMC article.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Tegtmeyer LC, et al. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. N Engl J Med. 2014. PMID: 24499211 Free PMC article.
53 results