Mucopolysaccharidoses and mucolipidoses

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1723-1729

  Wraith, James Edmond ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876823073     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00042-3     Document Type: Chapter

References (20)

1. Lysosomal Storage Disorders 2007, 350. Springer, New York. J.A. Barranger, J.A. Cabrera-Salazar (Eds.).
2. Cathey S.S., Kudo M., Tiede S., et al. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A 2008, 146A:512-513.
3. Cathey S.S., Leroy J.G., Wood T., et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 2009, 16. Online First, published on July 2009 as. http://dx.doi.org/10.1136/jmg.2009.067736.
4. Dong X.P., Cheng X., Mills E., et al. The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Nature 2008, 455:992-996.
5. El Dib R.P., Pastores G.M. A systemic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase. Biologics 2009, 3:459-468.
6. Harmatz P., Giugliani R., Schwartz I., et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 2006, 148:533-539.
7. Imundo L., Leduc C.A., Guha S., et al. A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. J Inherit Metab Dis 2011, 34:1013-1022.
8. Muenzer J., Wraith J.E., Beck M., et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006, 8:465-473.
9. Natowicz M.R., Short M.P., Wang Y., et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med 1996, 335:1029-1033.
10. Prasad V.K., Kurtzberg J. Emerging trends in transplantation of inherited metabolic diseases. Bone Marrow Transplant 2008, 41:99-108.
11. Robinson C., Baker N., Noble J., et al. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. J Inherit Metab Dis 2002, 25:681-693.
12. Rohrbach M., Clarke J.T. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs 2007, 67:5697-5716.
13. Sathasivam A., Garibaldi L., Murphy R., et al. Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II. J Pediatr Endocrinol Metab 2006, 19:859-862.
14. Seyrantepe V., Poupetova H., Froissart R., et al. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat 2003, 22:343-352.
15. Tolar J., Orchard P.J. Alpha-L-iduronidase therapy for mucopolysaccharidosis type I. Biologics 2008, 2:743-751.
16. Tolar J., Grewal S.S., Bjoraker K.J., et al. Combination of enzyme replacement therapy and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant 2008, 41:531-535.
17. Venugopal B., Mesires N.T., Kennedy J.C., et al. Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol 2009, 219:344-353.
18. Wraith J.E., Clarke L.A., Beck M., et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004, 144:581-588.
19. Wynn R.F., Mercedr J., Page J., et al. Use of enzyme replacement therapy (laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J Pediatr 2009, 154:135-139.
20. Yuksel A., Kayserili H., Gungor F. Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases. Fetal Diagn Ther 2007, 22:198-202.