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About 4,090 results

ALLMedicine™ Mucopolysaccharidosis Center

Research & Reviews  2,007 results

Natural progression of cardiac features and long-term effects of enzyme replacement the...
https://doi.org/10.1186/s13023-021-01743-2 10.1002/mgg3.471 10.1186/1750-1172-6-72 10.1016/j.ymgme.2017.05.016 10.1002/ajmg.a.32781 10.1007/BF01991908 10.1007/s004310050872 10.1111/j.1651-2227.2002.tb03330.x 10.2143/AC.60.1.2005049 10.1017/S1047951109003576 10.1007/s10545-011-9359-8 10.1017/S104795110999062X 10.1007/s10545-011-9444-z 10.1016/j.ymgme.2014.02.009 10.1016/j.ymgme.2016.02.003 10.1136/heartjnl-2015-309258 10.3390/diagnostics10020062 10.3390/diagnostics11010016 10.1016/j.amjcard.2006.02.047 10.1007/s10545-005-0211-x 10.1007/s10545-009-1119-7 10.1186/s13023-016-0471-6 10.1097/01.gim.0000232477.37660.fb 10.1007/s00431-007-0635-4 10.1016/j.ymgme.2009.08.006 10.1016/j.ymgme.2012.12.010 10.1016/j.ymgmr.2015.03.011 10.1007/s10545-014-9686-7 10.1515/jpem-2019-0293 10.1186/s13023-014-0135-3 10.1038/s41598-019-46829-x 10.3390/ijms21010114 10.1093/ehjci/jev014 10.1016/j.amjcard.2016.11.064 10.1016/j.echo.2003.12.005 10.1016/j.echo.2008.11.029 10.1093/ehjci/jet105 10.1186/s13023-018-0883-6 10.1186/s13023-019-1112-7 10.1016/j.echo.2005.10.005 10.1161/CIRCULATIONAHA.107.741157 10.1136/heart.83.6.667 10.3390/ijms17122004 10.1542/peds.2006-2156 10.1007/s10545-012-9481-2 10.1007/s10545-013-9649-4 10.1542/peds.2009-1728 10.1111/j.1399-0004.2009.01324.x 10.1186/s13023-015-0344-4 10.1016/j.ymgmr.2017.08.007 10.1186/s13023-018-0816-4 10.1016/j.jpeds.2018.09.063 10.1186/1750-1172-8-147 10.3390/diagnostics9040140
Orphanet Journal of Rare Diseases; Lin HY, Chen MR et. al.

Feb 24th, 2021 - Cardiac abnormalities have been observed in patients with mucopolysaccharidosis type II (MPS II). The aim of this study was to investigate the cardiac features and natural progression of Taiwanese patients with MPS II, and evaluate the impact of e...

Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety ...
https://doi.org/10.2174/1566523221666210126151420
Current Gene Therapy; Fraga M, Schuh RS et. al.

Feb 12th, 2021 - Mucopolysaccharidosis type I (MPS I) is an inherited disorder caused by α-L-iduronidase (IDUA) deficiency. The available treatments are not effective in improving all signs and symptoms of the disease. In the present study, we evaluated the transf...

Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type V...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878121
BMJ Case Reports; Sarfraz MW, Smith M et. al.

Feb 11th, 2021 - Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type VI on enzyme replacement therapy.|2021|Sarfraz MW,Smith M,Jones S,Ashworth J,|

Long term disease burden post-transplantation: three decades of observations in 25 Hurl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847591
Orphanet Journal of Rare Diseases; Guffon N, Pettazzoni M et. al.

Feb 1st, 2021 - Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) is critical to the survival of these pa...

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Guidelines  4 results

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisc...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223498
Orphanet Journal of Rare Diseases; Scarpa M, Almássy Z et. al.

Nov 8th, 2011 - Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in m...

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170181
Orphanet Journal of Rare Diseases; de Ru MH, Boelens JJ et. al.

Aug 12th, 2011 - Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum is very broad and varies from the severe Hurler phenotyp...

Mucopolysaccharidosis I: management and treatment guidelines.
https://doi.org/10.1542/peds.2008-0416
Pediatrics Muenzer J, Wraith JE et. al.

Jan 1st, 2009 - Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (approximately 1 case per 100,000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem c...

VIMIZIM® (elosulfase alfa) HCP
https://vimizim.com/hcp/

VIMIZIM® (elosulfase alfa) is indicated for patients with Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome).

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Drugs  11 results see all →

Clinicaltrials.gov  2,043 results

Natural progression of cardiac features and long-term effects of enzyme replacement the...
https://doi.org/10.1186/s13023-021-01743-2 10.1002/mgg3.471 10.1186/1750-1172-6-72 10.1016/j.ymgme.2017.05.016 10.1002/ajmg.a.32781 10.1007/BF01991908 10.1007/s004310050872 10.1111/j.1651-2227.2002.tb03330.x 10.2143/AC.60.1.2005049 10.1017/S1047951109003576 10.1007/s10545-011-9359-8 10.1017/S104795110999062X 10.1007/s10545-011-9444-z 10.1016/j.ymgme.2014.02.009 10.1016/j.ymgme.2016.02.003 10.1136/heartjnl-2015-309258 10.3390/diagnostics10020062 10.3390/diagnostics11010016 10.1016/j.amjcard.2006.02.047 10.1007/s10545-005-0211-x 10.1007/s10545-009-1119-7 10.1186/s13023-016-0471-6 10.1097/01.gim.0000232477.37660.fb 10.1007/s00431-007-0635-4 10.1016/j.ymgme.2009.08.006 10.1016/j.ymgme.2012.12.010 10.1016/j.ymgmr.2015.03.011 10.1007/s10545-014-9686-7 10.1515/jpem-2019-0293 10.1186/s13023-014-0135-3 10.1038/s41598-019-46829-x 10.3390/ijms21010114 10.1093/ehjci/jev014 10.1016/j.amjcard.2016.11.064 10.1016/j.echo.2003.12.005 10.1016/j.echo.2008.11.029 10.1093/ehjci/jet105 10.1186/s13023-018-0883-6 10.1186/s13023-019-1112-7 10.1016/j.echo.2005.10.005 10.1161/CIRCULATIONAHA.107.741157 10.1136/heart.83.6.667 10.3390/ijms17122004 10.1542/peds.2006-2156 10.1007/s10545-012-9481-2 10.1007/s10545-013-9649-4 10.1542/peds.2009-1728 10.1111/j.1399-0004.2009.01324.x 10.1186/s13023-015-0344-4 10.1016/j.ymgmr.2017.08.007 10.1186/s13023-018-0816-4 10.1016/j.jpeds.2018.09.063 10.1186/1750-1172-8-147 10.3390/diagnostics9040140
Orphanet Journal of Rare Diseases; Lin HY, Chen MR et. al.

Feb 24th, 2021 - Cardiac abnormalities have been observed in patients with mucopolysaccharidosis type II (MPS II). The aim of this study was to investigate the cardiac features and natural progression of Taiwanese patients with MPS II, and evaluate the impact of e...

Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety ...
https://doi.org/10.2174/1566523221666210126151420
Current Gene Therapy; Fraga M, Schuh RS et. al.

Feb 12th, 2021 - Mucopolysaccharidosis type I (MPS I) is an inherited disorder caused by α-L-iduronidase (IDUA) deficiency. The available treatments are not effective in improving all signs and symptoms of the disease. In the present study, we evaluated the transf...

Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type V...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878121
BMJ Case Reports; Sarfraz MW, Smith M et. al.

Feb 11th, 2021 - Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type VI on enzyme replacement therapy.|2021|Sarfraz MW,Smith M,Jones S,Ashworth J,|

Long term disease burden post-transplantation: three decades of observations in 25 Hurl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847591
Orphanet Journal of Rare Diseases; Guffon N, Pettazzoni M et. al.

Feb 1st, 2021 - Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) is critical to the survival of these pa...

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News  25 results

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management
https://reference.medscape.com/viewarticle/936001_3

Sep 17th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...

Pregnancy registries are a valuable resource
https://www.mdedge.com/familymedicine/article/175402/obstetrics/pregnancy-registries-are-valuable-resource/page/0/1
MDedge ObGyn;

Sep 21st, 2018 - The use of galsulfase (Naglazyme) for Maroteaux-Lamy syndrome during pregnancy is under study by the Mucopolysaccharidosis VI (MPS VI), clinical surveillance program (BioMarin Pharmaceutical) (415-506-6849 or 415-506-6703). Multiple sclerosis Nova.

Sly Syndrome Treatment OK'd (FDA)
https://www.medpagetoday.com/genetics/generalgenetics/69325

Nov 15th, 2017 - The FDA approved vestronidase alfa-vjbk (Mepsevii) to treat Sly syndrome, a.k.a. mucopolysaccharidosis type VII or MPS VII, the agency said Wednesday. MPS VII is a lysosomal storage disorder in which beta-glucuronidase is deficient. The novel enzy...

Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry
http://www.fda.gov/regulatory-information/search-fda-guidance-documents/mucopolysaccharidosis-type-iii-sanfilippo-syndrome-developing-drugs-treatment-guidance-industry

Submit Comments by 04/05/2020 Submit Comments Online Although you can comment on any guidance at any time (see 21 CFR 10.115(g)(5)), to ensure that the FDA considers your comment on a draft guidance before it begins work on the final version of th...

FDA Approves Infant Screen for Lysosomal Storage Disorders
https://www.medpagetoday.com/pediatrics/generalpediatrics/62922

Feb 3rd, 2017 - WASHINGTON -- A screening system to detect four lysosomal storage disorders in newborns is approved for marketing, the FDA said Friday. The Seeker System, made by Baebies Inc. in Durham, N.C., measures activity levels of proteins necessary for nor...

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