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Mucopolysaccharidosis

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest Level of Evidence Only (35)Treatment guideline (2)Meta-analysis (2)Phase 3 study (16)Systematic review (9)Randomized trial (6)Clinical trial (325)Review Article (168)Early-stage study (phase 1 or 2) (13)Case report (189)Laboratory or animal study (49)Commentary or editorial (21) Studies currently recruiting participants only (33)

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Publications (1059)

• Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations. (2021/01/01) ♡
• Temporospatial Development of Neuropathologic Findings in a Canine Model of Mucopolysaccharidosis IIIB. (2021/01/01) ♡
• Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. (2021/01/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Morphological damage in Sertoli, myoid and interstitial cells in a mouse model of mucopolysaccharidosis type I (MPS I). (2021/01/01) ♡
• Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center. (2021/01/01) ♡
• 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. Mucopolysaccharidosis III: Molecular basis and treatment. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma. (2021/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Combined Aortic and Mitral Valve Stenosis in Mucopolysaccharidosis Syndrome Type I-S: A Report of a Rare Case. (2021/01/01) ♡
• The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey. (2020/12/31) ♡
• Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA. (2020/12/28) ♡
• Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy. (2020/12/23) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene. (2020/12/11) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase. (2020/12/10) ♡
• Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I. (2020/12/08) ♡
• 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. Has resveratrol a potential for mucopolysaccharidosis treatment? (2020/12/05) ♡
• 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. Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome). (2020/12/05) ♡
• 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. Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies. (2020/12/04) ♡
• Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors. (2020/12/03) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center. (2020/12/02) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Response to: "Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis" by Patel et al. (2020/12/01) ♡
• Changes in expressions of genes involved in the regulation of cellular processes in mucopolysaccharidoses as assessed by fibroblast culture-based transcriptomic analyses. (2020/12/01) ♡
• ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs. (2020/12/01) ♡
• 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. Failures of Endochondral Ossification in the Mucopolysaccharidoses. (2020/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family. (2020/12/01) ♡
• Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study. (2020/11/30) ♡
• 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. Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex. (2020/11/30) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Low incidence of hepatocellular carcinoma in mice and cats treated with systemic adeno-associated viral vectors. (2020/11/26) ♡
• Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions. (2020/11/23) ♡
• Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience. (2020/11/19) ♡
• Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. (2020/11/18) ♡
• Is the eye a window to the brain in Sanfilippo syndrome? (2020/11/17) ♡
• 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. Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives. (2020/11/13) ♡
• A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening. (2020/11/12) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Simultaneous Opposition Tendon Transfer with Median Nerve Decompression for Severe Bilateral Carpal Tunnel Syndrome in Adolescents with Hunter Syndrome: A Case Report. (2020/11/10) ♡
• Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019). (2020/11/07) ♡
• Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature. (2020/11/02) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. "Profoundly Saddened" Lysogene Discloses Child's Death in Phase II/III Trial. (2020/11/01) ♡
• Treatable lysosomal storage diseases in the advent of disease-specific therapy. (2020/11/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty. (2020/10/31) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Home treatment of type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) an alternative at this time of COVID-19 pandemic: A case in Peru. (2020/10/31) ♡
• 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. Lysosomal sulfatases: a growing family. (2020/10/30) ♡
• Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach. (2020/10/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis. (2020/10/28) ♡
• 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. Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches. (2020/10/22) ♡
• Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2. (2020/10/22) ♡
• Altered IHH signaling contributes to reduced chondrocyte proliferation in the growth plate of MPS VII mice. (2020/10/22) ♡
• Targeting the Root Cause of Mucopolysaccharidosis IIIA with a New scAAV9 Gene Replacement Vector. (2020/10/22) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans. (2020/10/21) ♡
• Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase. (2020/10/21) ♡

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