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Mucopolysaccharidosis
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Publications and studies (1371)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hurler holes in Hunter syndrome. (2021/11/11) ♡
- Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing. (2021/11/05) ♡
- Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. (2021/11/03) ♡
- Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy. (2021/11/01) ♡
- Self-inactivating, all-in-one AAV vectors for precision Cas9 genome editing via homology-directed repair in vivo. (2021/11/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pharmacological Chaperones for β-Galactosidase Related to G(M1) -Gangliosidosis and Morquio B: Recent Advances. (2021/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mucopolysaccharidosis Type I Presenting as Bipolar Affective Disorder: A Case Report. (2021/11/01) ♡
- Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses. (2021/11/01) ♡
- Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS). (2021/10/30) ♡
- Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I. (2021/10/30) ♡
- Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis. (2021/10/25) ♡
- Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort. (2021/10/22) ♡
- Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study. (2021/10/22) ♡
- Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants. (2021/10/21) ♡
- Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series. (2021/10/19) ♡
- Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells. (2021/10/19) ♡
- Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data. (2021/10/10) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Iduronate-2-sulfatase transport vehicle rescues behavioral and skeletal phenotypes in a mouse model of Hunter syndrome. (2021/10/08) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord. (2021/10/06) ♡
- Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal. (2021/10/05) ♡
- The Unifying Hypothesis of Alzheimer's Disease: Heparan Sulfate Proteoglycans/Glycosaminoglycans Are Key as First Hypothesized Over 30 Years Ago. (2021/10/04) ♡
- Chitotriosidase as a biomarker for gangliosidoses. (2021/10/01) ♡
- Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study. (2021/09/28) ♡
- Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature. (2021/09/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI. (2021/09/27) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Increased Choroidal Thickness in Morquio Syndrome. (2021/09/27) ♡
- Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreement. (2021/09/25) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Oxidative Stress in Mucopolysaccharidoses: Pharmacological Implications. (2021/09/16) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders. (2021/09/11) ♡
- Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias. (2021/09/07) ♡
- Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia. (2021/09/01) ♡
- Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India. (2021/09/01) ♡
- Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis. (2021/08/31) ♡
- Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders. (2021/08/28) ♡
- Site-specific modifications to AAV8 capsid yields enhanced brain transduction in the neonatal MPS IIIB mouse. (2021/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report. (2021/07/27) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry. (2021/07/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transcatheter aortic valve implantation for severe aortic stenosis in a patient with mucopolysaccharidosis type II (Hunter syndrome) accompanied by severe airway obstruction. (2021/07/03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I. (2021/07/01) ♡
- Hearing Loss in Mucopolysaccharidosis. (2021/07/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. A molecular genetics view on Mucopolysaccharidosis Type II. (2021/07/01) ♡
- MALDI-TOF-MS analysis of hydrolysis products of beechwood and birchwood xylans catalyzed by xylanase from Bacillus subtilis. (2021/06/29) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Mucopolysaccharidosis Type IVA. (2021/06/17) ♡
- Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts. (2021/05/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mucopolysaccharidosis type VII diagnosed from a peripheral blood smear. (2021/05/01) ♡
- Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling. (2021/05/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Thalidomide as treatment of crohn-like disease occurred after allogeneic hematopoietic stem cell transplantation in a pediatric patient. (2021/05/01) ♡
- Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes. (2021/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling? (2021/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Intestinal lymphangiectasia in a patient with Sanfilippo B syndrome]. (2021/04/01) ♡
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