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Results: 15

Select item 223869721.

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.

Lehman A, Mattman A, Sin D, Pare P, Zong Z, d'Azzo A, Campos Y, Sirrs S, Hinek A.

Mol Genet Metab. 2012 May;106(1):99-103. doi: 10.1016/j.ymgme.2012.02.004. Epub 2012 Feb 8.

PMID:: 22386972; [PubMed - indexed for MEDLINE]

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Select item 222416562.

Determination of sialylated and neutral oligosaccharides in urine by mass spectrometry.

Clements PR.

Curr Protoc Hum Genet. 2012 Jan;Chapter 17:Unit17.10. doi: 10.1002/0471142905.hg1710s72.

PMID:: 22241656; [PubMed - indexed for MEDLINE]

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Select item 220089123.

Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis.

Hu H, Gomero E, Bonten E, Gray JT, Allay J, Wu Y, Wu J, Calabrese C, Nienhuis A, d'Azzo A.

Mol Ther. 2012 Feb;20(2):267-74. doi: 10.1038/mt.2011.227. Epub 2011 Oct 18.

PMID:: 22008912; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 219705064.

Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.

Gokce M, Unal O, Hismi B, Gumruk F, Coskun T, Balta G, Unal S, Cetin M, Kalkanoglu-Sivri HS, Dursun A, Tokatlı A.

Pediatr Hematol Oncol. 2012 Feb;29(1):92-8. doi: 10.3109/08880018.2011.601402. Epub 2011 Oct 4.

PMID:: 21970506; [PubMed - indexed for MEDLINE]

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Select item 213122775.

Myoclonus and angiokeratomas in adult galactosialidosis.

Abaroa L, Garretto NS, Arakaki T, Kauffman M, Moron DG, Figueredo AM, Szlago M, Metman LV.

Mov Disord. 2011 Mar;26(4):756-7. doi: 10.1002/mds.23500. Epub 2011 Feb 10. No abstract available.

PMID:: 21312277; [PubMed - indexed for MEDLINE]

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Select item 212373146.

Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses.

Sowell J, Wood T.

Anal Chim Acta. 2011 Feb 7;686(1-2):102-6. doi: 10.1016/j.aca.2010.11.047. Epub 2010 Dec 7.

PMID:: 21237314; [PubMed - indexed for MEDLINE]

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Select item 211181067.

Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.

d'Azzo A, Bonten E.

Biochem Soc Trans. 2010 Dec;38(6):1453-7. doi: 10.1042/BST0381453.

PMID:: 21118106; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 205463078.

Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues.

Bruggink C, Poorthuis BJ, Piraud M, Froissart R, Deelder AM, Wuhrer M.

FEBS J. 2010 Jul;277(14):2970-86. doi: 10.1111/j.1742-4658.2010.07707.x. Epub 2010 Jun 10.

PMID:: 20546307; [PubMed - indexed for MEDLINE]

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Select item 196791979.

Expression and molecular dynamics studies on effect of amino acid substitutions at Arg344 in human cathepsin A on the protein local conformation.

Yoshida T, Kadota Y, Hitaoka S, Kori E, Horikawa Y, Taguchi M, Tsuji D, Hirokawa T, Chuman H, Itoh K.

Biochim Biophys Acta. 2009 Nov;1794(11):1693-9. doi: 10.1016/j.bbapap.2009.08.004. Epub 2009 Aug 11.

PMID:: 19679197; [PubMed - indexed for MEDLINE]

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Select item 1966647110.

Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.

Bonten EJ, Campos Y, Zaitsev V, Nourse A, Waddell B, Lewis W, Taylor G, d'Azzo A.

J Biol Chem. 2009 Oct 9;284(41):28430-41. doi: 10.1074/jbc.M109.031419. Epub 2009 Aug 7.

PMID:: 19666471; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1946744811.

Serine carboxypeptidases in regulation of vasoconstriction and elastogenesis.

Pshezhetsky AV, Hinek A.

Trends Cardiovasc Med. 2009 Jan;19(1):11-7. doi: 10.1016/j.tcm.2009.03.002. Review.

PMID:: 19467448; [PubMed - indexed for MEDLINE]

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Select item 1946671612.

Galactosialidosis presenting as nonimmune fetal hydrops: a case report.

Carvalho S, Martins M, Fortuna A, Ramos U, Ramos C, Rodrigues MC.

Prenat Diagn. 2009 Sep;29(9):895-6. doi: 10.1002/pd.2299. No abstract available.

PMID:: 19466716; [PubMed - indexed for MEDLINE]

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Select item 1909792013.

Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria.

Darin N, Kyllerman M, Hård AL, Nordborg C, Månsson JE.

Eur J Paediatr Neurol. 2009 Nov;13(6):553-5. doi: 10.1016/j.ejpn.2008.11.003. Epub 2008 Dec 18.

PMID:: 19097920; [PubMed - indexed for MEDLINE]

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Select item 1893705014.

A Brazilian galactosialidosis patient given renal transplantation: a case report.

Kiss A, Zen PR, Bittencourt V, Paskulin GA, Giugliani R, d'Azzo A, Schwartz IV.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S205-8. doi: 10.1007/s10545-008-0730-3. Epub 2008 Oct 21.

PMID:: 18937050; [PubMed - indexed for MEDLINE]

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Select item 1839600215.

A case of galactosialidosis with a homozygous Q49R point mutation.

Matsumoto N, Gondo K, Kukita J, Higaki K, Paragison RC, Nanba E.

Brain Dev. 2008 Oct;30(9):595-8. doi: 10.1016/j.braindev.2008.01.012. Epub 2008 Apr 18.

PMID:: 18396002; [PubMed - indexed for MEDLINE]

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3 free full-text articles in PubMed Central

Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis. [Mol Ther. 2012]
Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis.
Hu H, Gomero E, Bonten E, Gray JT, Allay J, Wu Y, Wu J, Calabrese C, Nienhuis A, d'Azzo A. Mol Ther. 2012 Feb; 20(2):267-74. Epub 2011 Oct 18.
Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. [Biochem Soc Trans. 2010]
Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.
d'Azzo A, Bonten E. Biochem Soc Trans. 2010 Dec; 38(6):1453-7.
Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. [J Biol Chem. 2009]
Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.
Bonten EJ, Campos Y, Zaitsev V, Nourse A, Waddell B, Lewis W, Taylor G, d'Azzo A. J Biol Chem. 2009 Oct 9; 284(41):28430-41. Epub 2009 Aug 7.

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