319 top medical experts on Mucolipidoses across 36 countries and 28 U.S. states, including 158 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Mucolipidoses: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. intellectual disability and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Errors Carbohydrate Metabolism (1,325), Metabolic Bone Diseases (2,247), Nervous System Lysosomal Storage Diseases (88).
  4. Clinical Trials ClinicalTrials.gov : at least 8 including 1 Active, 3 Completed, 1 Recruiting
  5. Synonyms: Cherry Red Spot Myoclonus Syndrome,  Ganglioside Sialidase Deficiency Disease,  I-Cell Disease,  Lipomucopolysaccharidosis,  Mucolipidosis,  Myoclonus Cherry Red Spot Syndrome,  Pseudo-Hurler Polydystrophy,  Sialidosis


  

        

                    


    These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads, screen scraping or using the data) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

  1. Cathey, Sara S   Pediatrics   ClinicalTrials.gov Google Publications
    Greenwood Genetic Center, Greenwood, South Carolina.
    Physician  Highly Published  Case Reports 
    Medical school: Jc Edwards School of Medicine, Marshall University (MD, 1997)
    Medicare Accepted
    Disclosed payments in 2021 from 3 biomedical companies, totalling $131.52, including $120.45 from  Novartis Pharmaceuticals Corporation
    Subjects: Transferases (Other Substituted Phosphate Groups); Mutation; Abnormalities, Multiple; Chronic Kidney Disease-Mineral and Bone Disorder; Hematopoietic Stem Cell Transplantation
    Categories: Genetics; Methods; Pathology; Complications; Diagnosis; Etiology
    The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. (2019)
    The natural history and osteodystrophy of mucolipidosis types II and III. (2010)

  2. Shub, Mitchell D   Pediatric Gastroenterology  Google Publications
    Phoenix Childrens Hospital and University of Arizona College of Medicine-Phoenix, Phoenix, Arizona. Top Hospital
    Physician  Highly Published  Case Reports 
    Disclosed payments from biomedical company (Janssen Scientific Affairs, LLC) in 2021 for $112.49
    Subjects: Malabsorption Syndromes; Microvilli; Myosin Type V; Myosin Heavy Chains; Cell Membrane
    Categories: Metabolism; Genetics; Pathology; Complications; Etiology; Diagnosis
    Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. (2014)
    Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters. (2020)

  3. Kornfeld, Stuart A   Hematology  Google Publications
    Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
    Physician  Highly Published  Case Reports 
    Subjects: Transferases (Other Substituted Phosphate Groups); Lysosomes; Mutation, Missense; Abnormalities, Multiple; Chromosome Deletion
    Categories: Metabolism; Genetics; Pathology; Complications; Enzymology; Chemistry
    Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition. (2015)
    The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module. (2013)

  4. Lund, Troy C   Pediatric Hematology-Oncology   Google Publications
    Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA. Top Hospital
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 85/100
    Disclosed payments in 2021 from 3 biomedical companies, totalling $9,736.5, including $7,336.5 from  SANOFI US SERVICES INC.
    Subjects: Cathepsin K; Heart; Heart Defects, Congenital; Hematopoietic Stem Cell Transplantation; Transferases (Other Substituted Phosphate Groups)
    Categories: Genetics; Methods; Growth & Development; Therapy
    Outcomes after hematopoietic stem cell transplantation for children with I-cell disease. (2014)
    Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation. (2020)

  5. Dickman, Paul S   Pediatric Pathology  Google Publications
    Division of Pathology and Laboratory Medicine, Phoenix Childrens Hospital, Phoenix, AZ, USA.
    Physician 
    Subjects: Malabsorption Syndromes; Microvilli; Myosin Heavy Chains; Myosin Type V; Cell Membrane
    Categories: Metabolism; Etiology; Genetics; Pathology; Physiology
    Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. (2014)
    Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease. (2018)

  6. Goldenring, James R   General Practice   Google Publications
    Section of Surgical Sciences and.
    Physician  Highly Cited  Highly Published 
    Subjects: Malabsorption Syndromes; Microvilli; Myosin Type V; Myosin Heavy Chains; Enterocytes
    Categories: Metabolism; Genetics; Pathology; Deficiency; Drug Therapy; Etiology
    Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. (2014)
    Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters. (2020)

  7. Ameen, Nadia A   Pediatric Gastroenterology   Google Publications
    Department of Pediatrics, Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut. Top Hospital
    Physician  Highly Published 
    Subjects: Enterocytes; Malabsorption Syndromes; Microvilli; Myosin Type V; Myosin Heavy Chains
    Categories: Metabolism; Genetics; Pathology
    Loss of MYO5B Leads to Reductions in Na (2018)
    Identification of intestinal ion transport defects in microvillus inclusion disease. (2016)

  8. Thompson, Richard J   Cardiovascular Disease  Google Publications
    Paediatric Liver, GI & Nutrition Centre and MowatLabs.
    Physician 
    Medical school: Indiana University School of Medicine (MD, 1991)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 65/100
    Disclosed payments in 2021 from 12 biomedical companies, totalling $338.31, including $114.98 from  PFIZER INC.
    Subjects: Myosin Heavy Chains; Myosin Type V; Bile Acids and Salts; Cholestasis; Malabsorption Syndromes
    Categories: Metabolism; Genetics; Pathology
    Mutations in Myosin 5B in Children With Early-onset Cholestasis. (2020)
    Microvilli as markers of disordered apical-membrane trafficking and assembly: bowel and liver. (2014)

  9. Krainc, Dimitri   Neurology   Google Publications
    Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611 . Top Hospital
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 86.9/100
    Disclosed payments in 2021 from 2 biomedical companies, totalling $9,619.57, including $9,619.57 from  Eli Lilly and Company
    Subjects: Calcium; Lysosomes; Mitochondria; Transient Receptor Potential Channels
    Categories: Metabolism
    Mitochondria-lysosome contacts regulate mitochondrial Ca (2020)

  10. Liu, Mugen   Ophthalmology  Google Publications
    Physician 
    Subjects: Transferases (Other Substituted Phosphate Groups); DNA Mutational Analysis; Genetic Carrier Screening
    Categories: Genetics; Methods; Epidemiology
    Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene. (2011)
    Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. (2011)

  11. Mitchell, Grant A   Psychiatry  Google Publications
    Physician  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 72.4/100
    Disclosed payments from biomedical company (Teva Pharmaceuticals USA, Inc.) in 2021 for $14.75
    Subjects: Coronary Vessel Anomalies; Insulin; Neuraminidase; Signal Transduction
    Categories: Metabolism; Complications; Diagnosis; Physiology
    Positive regulation of insulin signaling by neuraminidase 1. (2013)
    An infant with mucolipidosis-II and an atretic orifice of the left coronary artery. (2010)

  12. Wang, Shirley L   General Practice  Google Publications
    Department of Neurology, Center for Human Genetic Research, Harvard Medical School, Boston, Massachusetts. Top Hospital
    Physician 
    Subjects: Brain; Iron; Myelin Sheath; Optic Nerve; Retinal Dystrophies
    Categories: Pathology; Metabolism
    Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV. (2015)
    Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV. (2016)

  13. Stevenson, Roger E   Cardiovascular Disease  Google Publications
    Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA.
    Physician 
    Subjects: Transferases (Other Substituted Phosphate Groups); Mutation; Protein Interaction Domains and Motifs
    Categories: Genetics; Diagnosis
    A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. (2014)
    Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. (2010)

  14. Hess, Michael W  Google Publications
    Division of Histology and Embryology, Innsbruck Medical University, Innsbruck, Austria.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Malabsorption Syndromes; Microvilli; Myosin Type V; Enterocytes; Cell Polarity
    Categories: Metabolism; Genetics; Pathology
    Loss of syntaxin 3 causes variant microvillus inclusion disease. (2014)
    An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. (2015)

  15. Huber, Lukas A  Google Publications
    Division of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.
    Scientist  Highly Cited  Highly Published  Case Reports 
    Subjects: Malabsorption Syndromes; Microvilli; Myosin Type V; Enterocytes; Qa-SNARE Proteins
    Categories: Metabolism; Genetics; Pathology
    Loss of syntaxin 3 causes variant microvillus inclusion disease. (2014)
    An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. (2015)

  16. Vogel, Georg F  Google Publications
    Division of Histology and Embryology, Medical University of Innsbruck, Innsbruck, Austria.
    Scientist  Highly Published  Case Reports 
    Subjects: Malabsorption Syndromes; Microvilli; Myosin Type V; Cell Polarity; Enterocytes
    Categories: Metabolism; Genetics; Pathology
    Loss of syntaxin 3 causes variant microvillus inclusion disease. (2014)
    An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. (2015)

  17. Orchard, Paul J   Pediatric Hematology-Oncology  ClinicalTrials.gov Google Publications
    Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota. Top Hospital
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 85/100
    Disclosed payments from biomedical company (GENZYME CORPORATION) in 2021 for $1,743
    Subjects: Hematopoietic Stem Cell Transplantation; Transplantation Conditioning
    Categories: Methods; Therapy
    Outcomes after hematopoietic stem cell transplantation for children with I-cell disease. (2014)

  18. Cooper, Jonathan D   Otolaryngology  Google Publications
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 100/100
    Disclosed payments in 2021 from 2 biomedical companies, totalling $528.33, including $442.48 from  CIPLA USA INC.
    Subjects: Brain
    Categories: Pathology; Physiopathology
    Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. (2014)

  19. Janecke, Andreas R   Google Publications
    Department of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria. .
    Scientist  Highly Published  Case Reports 
    Subjects: Malabsorption Syndromes; Microvilli; Myosin Type V; Qa-SNARE Proteins; Cell Polarity
    Categories: Metabolism; Genetics; Pathology
    Loss of syntaxin 3 causes variant microvillus inclusion disease. (2014)
    An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. (2015)

  20. Middendorp, Sabine   Google Publications
    Division of Paediatrics, Department of Paediatric Gastroenterology, Wilhelmina Childrens Hospital, 3584 CT, Utrecht, The Netherlands .
    Scientist  Highly Published  Case Reports 
    Subjects: Malabsorption Syndromes; Microvilli; Cell Polarity; Epithelial Cells; Intestines
    Categories: Pathology; Genetics; Metabolism
    Loss of syntaxin 3 causes variant microvillus inclusion disease. (2014)
    Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease. (2018)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

);