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Title
Mucolipidoses Overview: Past, Present, and Future
Authors
Keywords
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Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 21, Issue 18, Pages 6812
Publisher
MDPI AG
Online
2020-09-17
DOI
10.3390/ijms21186812
References
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- The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
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- (2019) Laurence Tabone et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2018) Esmee Oussoren et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2018) Heather Flanagan-Steet et al. Cell Reports
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- (2018) Ping Wang et al. BMC Veterinary Research
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- (2018) Ayano Yokoi et al. PEDIATRIC RESEARCH
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- (2017) Mina Yang et al. Orphanet Journal of Rare Diseases
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- (2016) Heather Flanagan-Steet et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
- (2016) Ankur Singh et al. INDIAN JOURNAL OF PEDIATRICS
- Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease)
- (2016) William I. Wooten et al. Journal of Clinical Sleep Medicine
- Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations
- (2016) Renata Voltolini Velho et al. JOURNAL OF HUMAN GENETICS
- AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II
- (2016) Ah-Ra Ko et al. MOLECULAR GENETICS AND METABOLISM
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- (2016) Shuang Liu et al. PLoS One
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- (2015) Shing-Chow Chan et al. IEEE-ACM Transactions on Computational Biology and Bioinformatics
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- (2015) Jonathan Mallen et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Cathepsin-Mediated Alterations in TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting
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- (2015) Takanobu Otomo et al. JOURNAL OF CELL BIOLOGY
- Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders
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- (2015) Eveline J. Langereis et al. PLoS One
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- (2014) Troy C. Lund et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
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- (2014) Shagun Aggarwal et al. GENE
- The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.
- (2014) K Wyatt et al. HEALTH TECHNOLOGY ASSESSMENT
- A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology
- (2014) Leigh Paton et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Analysis of Mucolipidosis II/IIIGNPTABMissense Mutations Identifies Domains of UDP-GlcNAc:lysosomal Enzyme GlcNAc-1-phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition
- (2014) Yi Qian et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models
- (2014) Sandra D. K. Kingma et al. JOURNAL OF INHERITED METABOLIC DISEASE
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- (2014) Eline van Meel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2009) S. S. Cathey et al. JOURNAL OF MEDICAL GENETICS
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- (2009) Shunji Tomatsu et al. MOLECULAR GENETICS AND METABOLISM
- Comparative Pathology of Murine Mucolipidosis Types II and IIIC
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- (2008) Sara S. Cathey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Endogenous heparan sulfate and heparin modulate bone morphogenetic protein-4 signaling and activity
- (2008) Shaukat A. Khan et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Sorting of lysosomal proteins
- (2008) Thomas Braulke et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
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