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Results: 1 to 20 of 37

1.

Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.

Borgwardt L, Lund AM, Dali CI.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:185-91. Review.

PMID:
25345101
[PubMed - indexed for MEDLINE]
2.

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR.

Br J Radiol. 2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14. Review. Erratum in: Br J Radiol. 2014 Mar;87(1035):20149002.

PMID:
24234586
[PubMed - indexed for MEDLINE]
3.

The neuropsychiatry of inborn errors of metabolism.

Walterfang M, Bonnot O, Mocellin R, Velakoulis D.

J Inherit Metab Dis. 2013 Jul;36(4):687-702. doi: 10.1007/s10545-013-9618-y. Epub 2013 May 23. Review.

PMID:
23700255
[PubMed - indexed for MEDLINE]
4.

Alpha-mannosidosis: a report of 2 siblings and review of the literature.

Govender R, Mubaiwa L.

J Child Neurol. 2014 Jan;29(1):131-4. doi: 10.1177/0883073812470973. Epub 2013 Jan 9. Review.

PMID:
23307885
[PubMed - indexed for MEDLINE]
5.

[Proteasome degradation of protein C and plasmin inhibitor mutants: molecular mechanism of congenital protein deficiency].

Nishio M, Koyama T, Hirosawa S.

Rinsho Byori. 2009 Aug;57(8):737-45. Review. Japanese.

PMID:
19764408
[PubMed - indexed for MEDLINE]
6.

Alpha-mannosidosis.

Malm D, Nilssen Ø.

Orphanet J Rare Dis. 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. Review.

PMID:
18651971
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Immune system irregularities in lysosomal storage disorders.

Castaneda JA, Lim MJ, Cooper JD, Pearce DA.

Acta Neuropathol. 2008 Feb;115(2):159-74. Epub 2007 Oct 9. Review.

PMID:
17924126
[PubMed - indexed for MEDLINE]
8.

Large animal models and gene therapy.

Casal M, Haskins M.

Eur J Hum Genet. 2006 Mar;14(3):266-72. Review.

PMID:
16333317
[PubMed - indexed for MEDLINE]
Free Article
9.

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases.

Krivit W.

Springer Semin Immunopathol. 2004 Nov;26(1-2):119-32. Epub 2004 Sep 25. Review.

PMID:
15452666
[PubMed - indexed for MEDLINE]
10.

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines.

Peters C, Steward CG; National Marrow Donor Program; International Bone Marrow Transplant Registry; Working Party on Inborn Errors, European Bone Marrow Transplant Group.

Bone Marrow Transplant. 2003 Feb;31(4):229-39. Review.

PMID:
12621457
[PubMed - indexed for MEDLINE]
11.

Golgi alpha-mannosidase II deficiency in vertebrate systems: implications for asparagine-linked oligosaccharide processing in mammals.

Moremen KW.

Biochim Biophys Acta. 2002 Dec 19;1573(3):225-35. Review.

PMID:
12417404
[PubMed - indexed for MEDLINE]
12.

Congenital disorders involving defective N-glycosylation of proteins.

Schachter H.

Cell Mol Life Sci. 2001 Jul;58(8):1085-104. Review.

PMID:
11529501
[PubMed - indexed for MEDLINE]
13.

[Mannosidosis].

Sakai N.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):135-6. Review. Japanese. No abstract available.

PMID:
11528660
[PubMed - indexed for MEDLINE]
14.

Recent progress in lysosomal alpha-mannosidase and its deficiency.

Sun H, Wolfe JH.

Exp Mol Med. 2001 Mar 31;33(1):1-7. Review.

PMID:
11322479
[PubMed - indexed for MEDLINE]
Free Article
15.

[Mannosidosis].

Yamaguchi S.

Ryoikibetsu Shokogun Shirizu. 2000;(32):340-2. Review. Japanese. No abstract available.

PMID:
11212738
[PubMed - indexed for MEDLINE]
16.

HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test.

Fukuda MN.

Biochim Biophys Acta. 1999 Oct 8;1455(2-3):231-9. Review.

PMID:
10571015
[PubMed - indexed for MEDLINE]
17.

Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.

Michalski JC, Klein A.

Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. Review.

PMID:
10571005
[PubMed - indexed for MEDLINE]
Free Article
18.

Lysosomal alpha-D-mannosidase.

Beccari T, Stinchi S, Orlacchio A.

Biosci Rep. 1999 Jun;19(3):157-62. Review.

PMID:
10513892
[PubMed - indexed for MEDLINE]
Free Article
19.

Oligosaccharide transport: pumping waste from the ER into lysosomes.

Moore SE.

Trends Cell Biol. 1999 Nov;9(11):441-6. Review.

PMID:
10511708
[PubMed - indexed for MEDLINE]
20.

[Beta-mannosidosis].

Yamaguchi S.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):458-9. Review. Japanese. No abstract available.

PMID:
9645109
[PubMed - indexed for MEDLINE]

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