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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2000 | 1 |
2007 | 2 |
2008 | 1 |
2009 | 1 |
2024 | 0 |
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5 results
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Page 1
Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.
Biochim Biophys Acta. 2009 Sep;1792(9):835-40. doi: 10.1016/j.bbadis.2009.01.004.
Biochim Biophys Acta. 2009.
PMID: 19339218
Free PMC article.
Review.
Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond.
Freeze HH.
Freeze HH.
Curr Mol Med. 2007 Jun;7(4):389-96. doi: 10.2174/156652407780831548.
Curr Mol Med. 2007.
PMID: 17584079
Review.
Item in Clipboard
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
Kranz C, Basinger AA, Güçsavaş-Calikoğlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH.
Kranz C, et al.
Am J Med Genet A. 2007 Jun 15;143A(12):1371-8. doi: 10.1002/ajmg.a.31791.
Am J Med Genet A. 2007.
PMID: 17506107
Item in Clipboard
The relative contribution of mannose salvage pathways to glycosylation in PMI-deficient mouse embryonic fibroblast cells.
Fujita N, Tamura A, Higashidani A, Tonozuka T, Freeze HH, Nishikawa A.
Fujita N, et al.
FEBS J. 2008 Feb;275(4):788-98. doi: 10.1111/j.1742-4658.2008.06246.x. Epub 2008 Jan 22.
FEBS J. 2008.
PMID: 18215164
Free article.
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Congenital disorders of glycosylation: have you encountered them?
Westphal V, Srikrishna G, Freeze HH.
Westphal V, et al.
Genet Med. 2000 Nov-Dec;2(6):329-37. doi: 10.1097/00125817-200011000-00005.
Genet Med. 2000.
PMID: 11339653
Free article.
Review.
No abstract available.
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