Maroteaux-Lamy Syndrome (Mucopolysaccharidosis Type VI) Differential Diagnoses

1. Kantaputra PN, Kayserili H, Güven Y, Kantaputra W, Balci MC, Tanpaiboon P, et al. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. J Inherit Metab Dis. 2014 Mar. 37(2):263-8. [QxMD MEDLINE Link].

2. Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Bertola DR, et al. New insights in mucopolysaccharidosis type VI: neurological perspective. Brain Dev. 2014 Aug. 36(7):585-92. [QxMD MEDLINE Link].

3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20. 281(3):249-54. [QxMD MEDLINE Link].

4. Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005. 28(6):1011-7. [QxMD MEDLINE Link].

5. Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004 Feb. 12(2):87-92. [QxMD MEDLINE Link].

6. Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, et al. Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region. Mol Genet Metab. 2012 Sep. 107(1-2):136-44. [QxMD MEDLINE Link].

7. Costa-Motta FM, Bender F, Acosta A, Abé-Sandes K, Machado T, Bomfim T, et al. A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. Hum Hered. 2014. 77(1-4):189-96. [QxMD MEDLINE Link].

8. Bartolomeo R, Polishchuk EV, Volpi N, Polishchuk RS, Auricchio A. Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis. 2012 Sep 13. [QxMD MEDLINE Link].

9. Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, et al. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Am J Med Genet A. 2014 Jun. 164A(6):1443-53. [QxMD MEDLINE Link].

10. Sohn YB, Park SW, Kim SH, Cho SY, Ji ST, Kwon EK, et al. Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation. Am J Med Genet A. 2012 May. 158A(5):1158-63. [QxMD MEDLINE Link].

11. Brands MM, Frohn-Mulder IM, Hagemans ML, Hop WC, Oussoren E, Helbing WA, et al. Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. J Inherit Metab Dis. 2012 Jan 26. [QxMD MEDLINE Link].

12. Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study. Am J Med Genet A. 2014 Aug. 164A(8):1953-64. [QxMD MEDLINE Link]. [Full Text].

13. Bagewadi S, Roberts J, Mercer J, Jones S, Stephenson J, Wraith JE. Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively. J Inherit Metab Dis. 2008 Dec. 31(6):733-7. [QxMD MEDLINE Link].

14. Harmatz P, Giugliani R, Schwartz I. 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-. J Pediatr. 2006 Apr. 148(4):533-539. [QxMD MEDLINE Link].

15. Harmatz P, Kramer WG, Hopwood JJ, et al. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl. 2005 Mar. 94(447):61-8; discussion 57. [QxMD MEDLINE Link].

16. Isbrandt D, Arlt G, Brooks DA, Hopwood JJ, et al. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Am J Hum Genet. 1994 Mar. 54(3):454-63. [QxMD MEDLINE Link].

17. Jones KL. Smith's Recognizable Patterns of Human Malformation. 1997. 468-9.

18. Karageorgos L, Harmatz P, Simon J. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Hum Mutat. 2004 Mar. 23(3):229-33. [QxMD MEDLINE Link].

19. Krivit W. Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv Pediatr. 2002. 49:359-78. [QxMD MEDLINE Link].

20. Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A. 2003 Dec 15. 123(3):310-3. [QxMD MEDLINE Link].

21. Neufeld EF, Muenzer J. The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease. 1995. 2465-94.

22. O'Brien JF, Cantz M, Spranger J. Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase. Biochem Biophys Res Commun. 1974 Oct 8. 60(3):1170-7. [QxMD MEDLINE Link].

23. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999 Jul-Aug. 105(1-2):151-6. [QxMD MEDLINE Link].

24. Swiedler SJ, Beck M, Bajbouj M. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A. 2005 Apr 15. 134(2):144-50. [QxMD MEDLINE Link].

Paul R Harmatz, MD Attending Physician, Department of Gastroenterology and Nutrition, Children’s Hospital Oakland

Paul R Harmatz, MD is a member of the following medical societies: American Gastroenterological Association

Disclosure: Received consulting fee from BioMarin Pharmaceutical Inc. for consulting; Received honoraria from BioMarin Pharmaceutical Inc. for speaking and teaching; Received advisory board from BioMarin Pharmceutical Inc. for board membership; Received consulting fee from Shire Human Genetic Therapies for board membership; Received honoraria from Shire Human Genetic Therapies for speaking and teaching; Received honoraria from Genzyme for speaking and teaching; Received grant/research funds from BioMarin Ph.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

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