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Items: 1 to 20 of 66

1.

Early onset alpha-mannosidosis with slow progression in three Hispanic males.

Lyons MJ, Wood T, Espinoza L, Stensland HM, Holden KR.

Dev Med Child Neurol. 2007 Nov;49(11):854-7. Erratum in: Dev Med Child Neurol. 2008 Jan;50(1):32.

2.

Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis.

Crawley AC, Walkley SU.

J Neuropathol Exp Neurol. 2007 Aug;66(8):687-97.

PMID:
17882013
3.

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D.

J Inherit Metab Dis. 2007 Oct;30(5):631-41. Epub 2007 Aug 10. Review.

PMID:
17694356
4.

Mammalian N-glycan branching protects against innate immune self-recognition and inflammation in autoimmune disease pathogenesis.

Green RS, Stone EL, Tenno M, Lehtonen E, Farquhar MG, Marth JD.

Immunity. 2007 Aug;27(2):308-20. Epub 2007 Aug 2.

5.

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.

Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T.

Clin Chim Acta. 2007 Jan;375(1-2):136-9. Epub 2006 Jul 6.

PMID:
16919251
6.

Enzyme replacement therapy in alpha-mannosidosis guinea-pigs.

Crawley AC, King B, Berg T, Meikle PJ, Hopwood JJ.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):48-57. Epub 2006 Jun 27.

PMID:
16807033
7.

Bilateral patellar dislocation associated with alpha-mannosidase deficiency.

Hale SS, Bales JG, Rosenzweig S, Daroca P, Bennett JT.

J Pediatr Orthop B. 2006 May;15(3):215-9.

PMID:
16601592
8.

Psychiatric symptoms in alpha-mannosidosis.

Malm D, Pantel J, Linaker OM.

J Intellect Disabil Res. 2005 Nov;49(Pt 11):865-71.

PMID:
16207285
9.

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T.

Hum Mutat. 2005 Mar;25(3):320.

PMID:
15712269
10.

Adult alpha-mannosidosis: clinical progression in the absence of demyelination.

Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM.

Neurology. 2004 Nov 9;63(9):1744-6.

PMID:
15534274
11.

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.

Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, Fuller M, Christensen E, Skovby F, Hopwood JJ.

Pediatrics. 2004 Oct;114(4):909-16.

PMID:
15466084
12.

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study.

Roces DP, Lüllmann-Rauch R, Peng J, Balducci C, Andersson C, Tollersrud O, Fogh J, Orlacchio A, Beccari T, Saftig P, von Figura K.

Hum Mol Genet. 2004 Sep 15;13(18):1979-88. Epub 2004 Jul 21.

PMID:
15269179
13.

Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation.

Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C.

J Pediatr. 2004 May;144(5):569-73.

PMID:
15126988
14.

Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.

Hansen G, Berg T, Riise Stensland HM, Heikinheimo P, Klenow H, Evjen G, Nilssen Ø, Tollersrud OK.

Biochem J. 2004 Jul 15;381(Pt 2):537-46.

15.

Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis.

Beccari T, Bibi L, Ricci R, Antuzzi D, Burgalossi A, Costanzi E, Orlacchio A.

J Inherit Metab Dis. 2003;26(8):819-20.

PMID:
14765545
16.

Sisters with alpha-mannosidosis and systemic lupus erythematosus.

Urushihara M, Kagami S, Yasutomo K, Ito M, Kondo S, Kitamura A, Malm D, Klenow H, Nilssen O, Kuroda Y.

Eur J Pediatr. 2004 Apr;163(4-5):192-5. Epub 2004 Feb 4.

PMID:
14760529
17.

Destructive joint disease in alpha-mannosidosis. A case report and review of the literature.

Gerards AH, Winia WP, Westerga J, Dijkmans BA, van Soesbergen RM.

Clin Rheumatol. 2004 Feb;23(1):40-2. Epub 2003 Nov 13.

PMID:
14749981
18.
19.

Alpha-mannosidosis and mutational analysis in a Turkish patient.

Olmez A, Nilssen O, Coşkun T, Klenow H.

Turk J Pediatr. 2003 Jan-Mar;45(1):46-50.

PMID:
12718372
20.

The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation.

Heikinheimo P, Helland R, Leiros HK, Leiros I, Karlsen S, Evjen G, Ravelli R, Schoehn G, Ruigrok R, Tollersrud OK, McSweeney S, Hough E.

J Mol Biol. 2003 Mar 28;327(3):631-44.

PMID:
12634058

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