• Mucopolysaccharidosis

    Who are the top experts researching treatments for mucopolysaccharidosis?

    The top experts researching mucopolysaccharidosis are: Roseline Froissart, Kenji E. Orii and Merry B. Passage.

  • What are the top concepts researched in studies about mucopolysaccharidosis?

    The most researched concepts in studies of mucopolysaccharidosis are: Lysosomal Storage, Enzyme Replacement Therapy, Hunter Syndrome, Dermatan Sulfate, Bone Marrow Transplantation, Mps Vii and Mouse Model.

  • What are some of the top places that specialize in mucopolysaccharidosis?

    Recommended institutions that specialize in mucopolysaccharidosis:

    1. Dr. Ghasak A. Mahmood12291 Washington Blvd #205, Whittier, CA 90606 Phone: +15627895447
    2. Alyeshmerni Khosrow MD108-28 68th Dr, Forest Hills, NY 11375 Phone: +17188960100
    3. Dr Paul Jenkins68 Harley St, London W1G 7HE, United Kingdom Phone: +442039703375
    4. 辻本クリニック3258 Fukaisawamachi, Naka Ward, Sakai, Osaka 599-8236, Japan Phone: +81722477602

Recent articles about Mucopolysaccharidosis

Audiologic Evaluations Of Children With Mucopolysaccharidosis

[ PUBLICATION ] INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). ...
Known for
Audiologic Evaluations | Hearing Loss | Early Ages | Lysosomal Enzymes

International Working Group Identifies Need For Newborn Screening For...

[ PUBLICATION ] AIM: Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to ...
Known for
Newborn Screening | International Working | Early Diagnosis | Numerous Problems

Importance Of Surgical History In Diagnosing Mucopolysaccharidosis Type Ii...

[ PUBLICATION ] ... with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these patients and helping physicians recognize the disease. METHODS: Data on surgical ...
Known for
Hunter Syndrome | Surgical History | Repeat Operations | Inguinal Hernias

A Clinical Multicenter Study Of Orofacial Features In 26 Brazilian Patients With...

[ PUBLICATION ] ... with mucopolysaccharidosis and to verify any possible associations between these findings and specific types of mucopolysaccharidosis. METHODS: Patients were diagnosed with ...
Known for
Orofacial Features | 26 Brazilian | Open Bite | Mucopolysaccharidosis Iva

Long-Term Efficacy Of Hematopoietic Stem Cell Transplantation On Brain...

[ PUBLICATION ] ... with mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for mucopolysaccharidosis I (MPS I) patients <2 years of age and an intelligence quotient (IQ) of ≥ 70. Even ...
Known for
Brain Involvement | Nationwide Survey | Hematopoietic Stem | Hsct Mps

Analysis Of The Upper Airway By The Acoustic Reflection Method In Children With...

[ PUBLICATION ] ... with mucopolysaccharidosis. The acoustic reflection method is a noninvasive technique that can analyze the caliber of the upper airways. The aim of the study was to evaluate the ...
Known for
Acoustic Reflection Method | Upper Airway | Noninvasive Technique | Reliable Measurements

Enzyme-Replacement Therapy In Mucopolysaccharidosis I

[ PUBLICATION ] BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with ...
Known for
Enzyme-Replacement Therapy | Recombinant Alpha-L-Iduronidase | Lysosomal Storage | Urinary Glycosaminoglycan Excretion

A Clinical Study Of 77 Patients With Mucopolysaccharidosis Type Ii

[ PUBLICATION ] ... with mucopolysaccharidosis type II (MPS II). METHODS: Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients ...
Known for
Biochemical Diagnosis | Urinary Glycosaminoglycans | Behavioural Disturbances | South America

Fifteen Years Of Enzyme Replacement Therapy For Mucopolysaccharidosis Type Vi...

[ PUBLICATION ] BACKGROUND: Mucopolysaccharidosis VI, or Maroteaux-Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of ...
Known for
Enzyme Replacement Therapy | –lamy Syndrome | Multiplex Dysostosis | Longer Survival

A Phase Ii/iii Clinical Study Of Enzyme Replacement Therapy With Idursulfase In...

[ PUBLICATION ] ... of mucopolysaccharidosis II. METHODS: Ninety-six mucopolysaccharidosis II patients between 5 and 31 years of age were enrolled in a double-blind, placebo-controlled trial. Patients were ...
Known for
Hunter Syndrome | Enzyme Replacement Therapy | Weekly Idursulfase | Composite Endpoint

 

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