mucopolysaccharidosis II Disease Ontology Browser - DOID:12799mucopolysaccharidosis II Disease Ontology Browser - DOID:12799

MPS II - Hunter syndrome; Mucopolysaccharidosis, MPS-II (disorder) ... Synonyms: deficiency of iduronate-2-sulphatase; Hunter syndrome; Hunters syndrome; ... MPS II - Hunter syndrome; Mucopolysaccharidosis, MPS-II (disorder) Alt IDs: OMIM:309900, ICD10CM:E76.1, MESH:D016532, NCI: ... mucopolysaccharidosis II (DOID:12799) Alliance: disease page Synonyms: deficiency of iduronate-2-sulphatase; Hunter syndrome; ...
more infohttp://www.informatics.jax.org/disease/309900

A Study of JR-141 in Patients With Mucopolysaccharidosis II - Full Text View - ClinicalTrials.govA Study of JR-141 in Patients With Mucopolysaccharidosis II - Full Text View - ClinicalTrials.gov

A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II. ... Mucopolysaccharidosis II. Mucopolysaccharidoses. Carbohydrate Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic ... Mucopolysaccharidosis type II Genetic and Rare Diseases Information Center resources: Mucopolysaccharidosis ... A Study of JR-141 in Patients With Mucopolysaccharidosis II. The safety and scientific validity of this study is the ...
more infohttps://clinicaltrials.gov/ct2/show/NCT03568175?term=hunter+syndrome&

Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) - Study Results - ClinicalTrials.govIduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) - Study Results - ClinicalTrials.gov

Mucopolysaccharidosis II. Interventions: Biological: Iduronate-2-sulfatase enzyme replacement therapy. Biological: iduronate-2- ... Raluy-Callado M, Chen WH, Whiteman DA, Fang J, Wiklund I. The impact of Hunter syndrome (mucopolysaccharidosis type II) on ... MPS II). The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing ... 2 2 5 [1]. Age at randomization. The participant who was less than (,) 5 years old was considered for randomization to be in 5 ...
more infohttps://clinicaltrials.gov/ct2/show/results/NCT00069641

Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II | American Journal...Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II | American Journal...

Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II. L. Vedolin, I.V.D ... Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II ... Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II ... Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II ...
more infohttp://www.ajnr.org/content/28/6/1029/tab-figures-data

Hunter Syndrome (Mucopolysaccharidosis Type II): Background, Pathophysiology, EpidemiologyHunter Syndrome (Mucopolysaccharidosis Type II): Background, Pathophysiology, Epidemiology

MPS II), is a member of a group of inherited metabolic disorders collectively termed mucopolysaccharidoses (MPSs). The MPSs are ... encoded search term (Hunter Syndrome (Mucopolysaccharidosis Type II)) and Hunter Syndrome (Mucopolysaccharidosis Type II) What ... Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a member of a group of inherited metabolic disorders ... A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). ...
more infohttps://emedicine.medscape.com/article/944723-overview

Mucopolysaccharidosis type II - Genetics Home ReferenceMucopolysaccharidosis type II - Genetics Home Reference

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the ... Scarpa M. Mucopolysaccharidosis Type II. 2007 Nov 6 [updated 2015 Mar 26]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, ... Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005 Apr;32(4):270-2. Review. ... Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J. Recognition and diagnosis of mucopolysaccharidosis II ( ...
more infohttps://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii

PRIME PubMed | [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)PRIME PubMed | [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)

Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome) were found in PRIME PubMed. Download Prime ... Prenatal diagnosis of mucopolysaccharidosis type II].. *Detection of mucopolysaccharidosis type II by measurement of iduronate- ... Mucopolysaccharidosis type II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked recessive lysosomal storage disease ... Mucopolysaccharidosis type II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked recessive lysosomal storage disease ...
more infohttps://www.unboundmedicine.com/medline/citation/17217652/%5BPostnatal_and_prenatal_diagnosis_of_mucopolysaccharidosis_type_II__Hunter_syndrome_%5D_

Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II - Current ProtocolsDiagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II - Current Protocols

MPS II) is an X‐linked lysosomal storage disorder caused by a deficiency of iduronate 2‐sulfatase (IDS) ... Mucopolysaccharidosis type II (MPS II) is an X‐linked lysosomal storage disorder caused by a deficiency of iduronate 2‐ ... mucopolysaccharidosis Type II; MPS II; Hunter Syndrome; mucopolysaccharide; glycosaminoglycans ... Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II. Britt A. Johnson1, Otto P. van Diggelen2, Angela Dajnoki ...
more infohttp://www.currentprotocols.com/WileyCDA/CPUnit/refId-hg1714.html?quicktabs_cp=materials

Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome) |...Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome) |...

Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome). ... Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome) ... Records were reviewed on all patients with mucopolysaccharidosis type II (Hunter syndrome) seen at a single institution from ... These findings suggest that respiratory distress is more commonly observed in neonates with MPS II than in the general ...
more infohttps://www.luriechildrens.org/en/research/publications/increased-incidence-of-neonatal-respiratory-distress-in-infants-with-mucopolysaccharidosis-type-ii-mps-ii-hunter-syndrome/

Mucopolysaccharidosis I, II, and VI : brief review and guidelines for treatmentMucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment

... Autor Giugliani, Roberto Federhen, Andressa ... Mucopolissacaridose II Mucopolissacaridose VI [en] Enzyme replacement therapy [en] Hunter syndrome [en] Hurler syndrome [en] ... Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the ... II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, ...
more infohttp://www.lume.ufrgs.br/handle/10183/34295

Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro®) Quantitative, UrineMucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro®) Quantitative, Urine

MPS II Creatinine, Urine. Resultable. N. mg/dL. XXX. For questions regarding the Interface Map, please contact interface. ... MPS II Creatinine, Urine. * Component test codes cannot be used to order tests. The information provided here is not sufficient ... Use to monitor heparan sulfate (total disaccharides and nonreducing ends) excretion for MPS Type II patients who are on therapy ... Transfer 2 mL urine to ARUP Standard Transport Tube and freeze immediately. (Min: 1 mL) Storage/Transport Temperature. Frozen. ...
more infohttp://ltd.aruplab.com/Tests/Pub/2009282

Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes | SpringerLinkCerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes | SpringerLink

We describe a cerebral MRI study of two brothers with mucopolysaccharidosis type I. They are of similar physical appearance, ... We describe a cerebral MRI study of two brothers with mucopolysaccharidosis type I. They are of similar physical appearance, ... Cerebral MRI in two brothers with mucopolysaccharidosis type I and different clinical phenotypes. ... Dekaban AS, Costantopoulos G (1977) Mucopolysaccharidosis Types I, II, IIIA and V: pathological and biochemical abnormalities ...
more infohttps://link.springer.com/article/10.1007/BF00588189

Disease InfoSearch - Mucopolysaccharidosis type II - Definition, causes, resources and support informationDisease InfoSearch - Mucopolysaccharidosis type II - Definition, causes, resources and support information

Mucopolysaccharidosis II (MPS II), also commonly known as Hunter syndrome, is a condition that occurs almost exclusively in ... MPS II is caused by mutations in the IDS gene. There are two types of MPS II, called the severe and attenuated types. While ... Mucopolysaccharidosis type II. Hunter Syndrome Get Update Overview. Type of Disease: Rare Condition or Disease Genetic, X- ... Heart disease and airway obstruction are major causes of death in people with both types of MPS II. Source: Genetic and Rare ...
more infohttps://www.diseaseinfosearch.org/result/4913

List of Mucopolysaccharidosis Type IV Medications (2 Compared) - Drugs.comList of Mucopolysaccharidosis Type IV Medications (2 Compared) - Drugs.com

Compare risks and benefits of common medications used for Mucopolysaccharidosis Type IV. Find the most popular drugs, view ... What is Mucopolysaccharidosis Type IV: Mucopolysaccharidosis Type IV is a rare, lysosomal storage disease caused by a ... Medications to treat Mucopolysaccharidosis Type IV. The following list of medications are in some way related to, or used in ... Looking for answers? Ask a question or go join the mucopolysaccharidosis type iva support group to connect with others who have ...
more infohttps://www.drugs.com/condition/mucopolysaccharidosis-type-iv.html

Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective...Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective...

II, III, IVa and VI and to evaluate the craniofacial effect of... ... morphology of patients with mucopolysaccharidosis (MPS) type I ... The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II ... Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective ... Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis ...
more infohttps://rd.springer.com/article/10.1007/s00784-017-2240-x

Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective...Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective...

Mucopolysaccharidoses (MPS) are a group of seven inherited lysosomal storage disorders caused by a deficiency of 11 distinct ... The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II ... Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective ... Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective ...
more infohttps://www.springermedizin.de/differences-in-maxillomandibular-morphology-among-patients-with-/15144736

Mucopolysaccharidosis Type II (Hunter Syndrome) | Epiomic Segmentation | Epiomic Database | Epiomic DatabaseMucopolysaccharidosis Type II (Hunter Syndrome) | Epiomic Segmentation | Epiomic Database | Epiomic Database

Mucopolysaccharidosis Type II (Hunter Syndrome) patient population data split by country and gender, starting 1980 and ending ... mucopolysaccharidosis type ii (hunter syndrome) - Prevalence patient population data split by country and gender, starting 1980 ... Mucopolysaccharidosis Type I. *Mucopolysaccharidosis Type II (Hunter Syndrome). *Mucopolysaccharidosis Type III (Sanfilippo ...
more infohttps://www.epiomic.com/epidemiology-databases/epiomic-segmentation/diseases/mucopolysaccharidosis-type-ii-hunter-syndrome?category=260

Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome) |...Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome) |...

In children with MPS type 2, the risk of airway obstruction during anesthesia/sedation is high, and the degree of difficulty ... MPS type 2) (Hunter syndrome). This disorder is rare and related to the accumulation of a mucopolysaccharide in lysosomes. It ... management during aortic valve replacement for aortic valve regurgitation in a patient with adult mucopolysaccharidosis type II ... Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome). ...
more infohttps://jaclinicalreports.springeropen.com/articles/10.1186/s40981-018-0162-5

Press releases for 8/1/2013Press releases for 8/1/2013

Mucopolysaccharidosis II (MPS II) (Hunter Syndrome ) - Pipeline Review, H2 2012. Research and Markets - August 01, 2013 by ... Research and Markets press release - Mucopolysaccharidosis II (MPS II) (Hunter Syndrome ) - Pipeline Review, H2 2012 ... It is expected that fresh offshore development projects commencing in the next one to two years in Norway will stabilize ... The World Generic Market Report 2013 - Volume 1 & 2 - A Complete Global Analysis. Research and Markets - August 01, 2013 by ...
more infohttp://prsync.com/archives/2013-8-1/

Elaprase New FDA Drug Approval | CenterWatchElaprase New FDA Drug Approval | CenterWatch

For the treatmenr of mucopolysaccharidosis II (Hunter Syndrome). New approved drug details including side effects, uses and ... Kimura A A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter ... which abnormally accumulate in multiple tissue types in patients with mucopolysaccharidosis II (MPS-II, or Hunter syndrome). ... An Open Label Extension study of TKT024 Evaluating Long-term Safety and Clinical Outcomes of MPS II Patients Receiving I2S ...
more infohttp://www.centerwatch.com/drug-information/fda-approved-drugs/drug/906/

Bruno BembiBruno Bembi

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs ... Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional ... Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the ... Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.. Authors:. Laura Deroma Mattia Guerra ...
more infohttps://www.pubfacts.com/author/Bruno+Bembi

Search of: batten - List Results - ClinicalTrials.govSearch of: batten - List Results - ClinicalTrials.gov

Mucopolysaccharidosis II. *(and 9 more...). *Biological: DUOC-01. Interventional. Phase 1. *Joanne Kurtzberg, MD ... Study has passed its completion date and status has not been verified in more than two years. ... Number of Patients With Grade II-IV Acute Graft-Versus-Host Disease ... and 2 more...). 23. All. 3 Years to 16 Years (Child). NCT02485899. 190-202. February 2015. July 2020. January 2021. June 30, ...
more infohttps://www.clinicaltrials.gov/ct2/results?term=batten&Search=Search

Search of: Recruiting Studies | adrenal insufficiency | NIH, U.S. Fed, Other - List Results - ClinicalTrials.govSearch of: Recruiting Studies | adrenal insufficiency | NIH, U.S. Fed, Other - List Results - ClinicalTrials.gov

Mucopolysaccharidosis II. *(and 9 more...). *Biological: DUOC-01. Interventional. Phase 1. *Joanne Kurtzberg, MD ... Study has passed its completion date and status has not been verified in more than two years. ... and 2 more...). 77. All. 18 Years to 90 Years (Adult, Older Adult). NCT03140761. COPTRIN. August 17, 2017. August 2019. August ... and 2 more...). 15000. All. up to 18 Years (Child, Adult). NCT02769975. 160113. 16-CH-0113. May 11, 2016. December 31, 2030. ...
more infohttps://www.clinicaltrials.gov/ct2/results?cond=adrenal+insufficiency&recrs=a&age_v=&gndr=&type=&rslt=&fund=0&fund=1&fund=3&Search=Apply

Cafe-au-lait spots in children - Symptom Checker - check medical symptoms at RightDiagnosisCafe-au-lait spots in children - Symptom Checker - check medical symptoms at RightDiagnosis

6. Mucopolysaccharidosis II. Disorder of mucopolysaccharide metabolism in juveniles....read more ». 7. Neurofibromatosis. Nerve ... AND Mucopolysaccharidoses causing splenomegaly (1 match). *AND Progressive global delay due to diseases affecting the white & ... Narrow Your Search: Add a 2nd Symptom. Choose another medical symptom from the list below to search in addition to the already ... 2. Bloom Syndrome. A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized ...
more infohttps://wrongdiagnosis.com/cosymptoms/cafe-au-lait-spots-in-children-desc.htm

Protein Replacement Therapies for Rare Diseases: A Breeze for Regulatory Approval? | Science Translational MedicineProtein Replacement Therapies for Rare Diseases: A Breeze for Regulatory Approval? | Science Translational Medicine

Mucopolysaccharidosis I. -. -. -. 1. 1. Iduronate sulfatase. Mucopolysaccharidosis II. -. -. -. 1. 1. N-acetylgalactosamine-4- ... 2Lotus Tissue Repair, a wholly owned subsidiary of Shire Human Genetic Therapies, Lexington, MA 02421, USA. ...
more infohttps://stm.sciencemag.org/content/5/178/178fs10/tab-figures-data