• KOLs
  • Mucopolysaccharidosis

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#1
Roberto Giugliani
Roberto Giugliani
INAGEMP Porto Alegre Rio Grande do Sul Brazil Medical Genetics Service, HCPA Porto Alegre Rio Grande do Sul Brazil Post Graduation Program on Medical Sciences, UFRGS Porto ...
Known for star star star star star
Enzyme Replacement Therapy | Latin America | Hunter Syndrome | Lysosomal Storage
#2
John J. Hopwood
John J. Hopwood
The University of Adelaide, School of Medicine, North Terrace, Adelaide, South Australia, Australia; Hopwood Centre for Neurobiology, Lifelong Health Theme, South Australian ...
Known for star star star star star
Mps Iiia | Lysosomal Storage Disorders | Sanfilippo Syndrome | Enzyme Replacement Therapy

#3
Paul R. Harmatz
Paul R. Harmatz
Division of Gastroenterology, Children's Hospital & Research Center, Oakland, CA;
Known for star star star star star_half
Elosulfase Alfa | Iron Overload | Enzyme Replacement Therapy | Hunter Syndrome
#4
Chester B. Whitley
Chester B. Whitley
University of Minnesota Masonic Children’s Hospital, Minneapolis, MN, USA
Known for star star star star star_half
Hurler Syndrome | Enzyme Replacement Therapy | Vestronidase Alfa | Lysosomal Acid Lipase Deficiency
#5
Mark E. Haskins
Mark E. Haskins
School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, United States of America
Known for star star star star star_half
Gene Therapy | Lysosomal Storage | Mps Vii | Animal Models
#6
Shunji Tomatsu
Shunji Tomatsu
Department of Biomedical Research, Alfred I. duPont Institute Hospital for Children, Wilmington, DE USA Skeletal Dysplasia Lab, Department of Biomedical Research, ...
Known for star star star star star_half
Mps Iva | Enzyme Replacement Therapy | Morquio Syndrome | Keratan Sulfate
#7
Michael H. Beck
Michael H. Beck
Villa Metabolica, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg‐University of Mainz, Mainz, Germany
Known for star star star star star_half
Enzyme Replacement Therapy | Agalsidase Alfa | Hunter Syndrome | Allergic Contact Dermatitis
#8
Guilherme Baldo
Guilherme Baldo
Centro de Terapia Gênica do Hospital de Clinicas de Porto Alegre, R. Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Fisiologia da ...
Known for star star star star star_half
Gene Therapy | Lysosomal Disorders | Gm1 Gangliosidosis | Genome Editing
#9
James Edmond Wraith
James Edmond Wraith
Royal Manchester Children's Hospital, University of Manchester School of Medicine, Manchester M27 1HA, United Kingdom; Fax: 81‐58‐265‐9011
Known for star star star star star_half
Enzyme Replacement Therapy | Hurler Syndrome | Mps Iii | Natural History
#10
Katherine Parker Ponder
Katherine Parker Ponder
Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, 63110 Department of Biochemistry and Molecular Biophysics, Washington ...
Known for star star star star star_border
Gene Therapy | Retroviral Vector | Lysosomal Storage | Vii Dogs
#11
Ida Vanessa Doederlein Schwartz
Ida Vanessa Doederlein Schwartz
Porto Alegre, Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Brazil Porto Alegre, Rio Grande do Sul, Universidade Federal do Rio Grande do Sul, Department of ...
Known for star star star star star_border
Enzyme Replacement Therapy | Classical Homocystinuria | Glycogen Storage | Maple Syrup Urine
#12
Maurizio Scarpa
Maurizio Scarpa
Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Horst Schmidt ...
Known for star star star star star_border
Hunter Syndrome | Lysosomal Storage | Enzyme Replacement Therapy | Southern Italy
#13
Tadao Orii
Tadao Orii
Department of Pediatrics, Gifu University Graduate School of Medicine, Yanagido 1-1, Gifu 501-1194, Japan;, kenjior-gif@umin.ac.jp, (K.O.);, toshi-gif@umin.net, (T.F.);, ...
Known for star star star star star_border
Mps Iva | Zellweger Syndrome | Proliferative Responses | Atopic Dermatitis
#14
Carole A. Vogler
Carole A. Vogler
From the Department of Pathology and Laboratory Medicine (C.V., C.S.-A., D.L.) and the Department of Surgery (P.B., T.W.), St. Louis University School of Medicine, and the ...
Known for star star star star star_border
Lysosomal Storage | Murine Model | Mps Vii | Enzyme Replacement
#15
Joseph Muenzer
Joseph Muenzer
From the Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Department of Pediatrics, University Medical Center, University of ...
Known for star star star star star_border
Hunter Syndrome | Enzyme Replacement Therapy | North Carolina | Cognitive Impairment
#16
William. S. Sly
William. S. Sly
E. A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, 1402 S. Grand Blvd. St. Louis, Missouri, 63104, USA
Known for star star star star star_border
Carbonic Anhydrase | Lysosomal Storage | Mps Vii | Hereditary Hemochromatosis
#17
Frits A. Wijburg
Frits A. Wijburg
Department of Paediatrics, Academic Medical Center, University of Amsterdam, 11005 AZ Amsterdam, The Netherlands
Known for star star star star star_border
Mps Iii | Newborn Screening | Enzyme Replacement Therapy | Familial Hypercholesterolemia

 

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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 star star star star star
Hunter Syndrome | Surgical History | Repeat Operations | Inguinal Hernias

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 star star star star star
Newborn Screening | International Working | Early Diagnosis | Symptom Onset

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 star star star star star_half
Brain Involvement | Nationwide Survey | Hematopoietic Stem | Cardiac Valvular Regurgitation

Mucopolysaccharidosis Type Ii: European Recommendations For The Diagnosis And...

[ PUBLICATION ]
Known for star star star star star_half
European Recommendations | Multidisciplinary Management | Enzyme Deficiency | Stem Transplantation

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 star star star star star_half
Biochemical Diagnosis | Refraction Errors | South America | Birth Weight

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 star star star star star_half
Audiologic Evaluations | Hearing Loss | Early Ages | Mental Retardation

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 star star star star star_half
Acoustic Reflection Method | Upper Airway | Reliable Measurements | Noninvasive Technique

Enzyme Replacement Therapy For Mucopolysaccharidosis Vi: Long-Term Cardiac...

[ PUBLICATION ] ... with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant ...
Known for star star star star star_half
Enzyme Replacement Therapy | Long-Term Cardiac Effects | Ventricular Hypertrophy | Aortic Regurgitation

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 star star star star star_half
Orofacial Features | 26 Brazilian | Open Bite | Mucopolysaccharidosis Iva

Identifying The Need For A Multidisciplinary Approach For Early Recognition Of...

[ PUBLICATION ]
Known for star star star star star_half
Early Recognition | Multidisciplinary Approach | Impaired Degradation | Dysostosis Multiplex