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Mucopolysaccharidosis
Epidemiology of Mucopolysaccharidoses Update
Mini-Review on “Molecular Diagnosis of 65 Families With
Beta-Galactosidase Deficiency: Beta-Galactosidase Activity, Leukocytes Test Code: LO Turnaround Time: 7 Days - 10 Days CPT Codes: 82657 X1
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: an Update
Diversity of Mutations and Distribution of Single Nucleotide Polymorphic Alleles in the Human -L-Iduronidase (IDUA) Gene
Sanfilippo Disease Type D: Deficiency of N-Acetylglucosamine-6- Sulfate Sulfatase Required for Heparan Sulfate Degradation
Mucopolysaccharidosis Type IIIA, and a Child with One SGSH Mutation and One GNS Mutation Is a Carrier
GM1 Gangliosidosis and Morquio B Disease
Hurler Syndrome (Mucopolysaccharidosis Type I) Reuben Grech, Leo Galvin, Alan O’Hare, Seamus Looby
Translarna Granted Orphan Drug Designation in the U.S. and Europe for the Treatment of Mucopolysaccharidosis I
Phenotypic Expression in Mucopolysaccharidosis VII
Sanfilippo Type B Syndrome (Mucopolysaccharidosis III B)
Hurler Syndrome
Recombinant Human Α‑N‑Acetylglucosaminidase/NAGLU Catalog Number: 7096-GH
Vestronidase Alfa (UX-003) for Mucopolysaccharidosis Type VII (MPS 7; Sly Syndrome) NIHRIO (HSRIC) ID: 11463 NICE ID: 9146
Carrier of Hunter Disease J Med Genet: First Published As 10.1136/Jmg.34.2.137 on 1 February 1997
Top View
Mucopolysaccharidosis Type IV
Sanfilippo Syndrome
Mucopolysaccharidosis (MPS I) Overview Mucopolysaccharidosis I (MPS I) Is an Inherited, Multisystem, Progressive Disorder
Mucopolysaccharidosis, Type I (MPSI)
Mucopolysaccharidosis Type III (Sanfilippo Syndrome):Developing Drugs for Treatment Guidance for Industry
Lysosomal Storage Disease Panel by Next-Generation Sequencing
Perinatal/Neonatal Case Presentation &&&&&&&&&&&&&& Mucopolysaccharidosis Type VII Presenting with Isolated Neonatal Ascites
Public Summary of Opinion on Orphan Designation Recombinant Human
Hunter's Syndrome and Oral Manifestations
Delivery of an Enzyme-IGFII Fusion Protein to the Mouse Brain Is Therapeutic for Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type VI
NAGLU Gene N-Acetyl-Alpha-Glucosaminidase
Lysosomal Storage Diseases ª the Author(S) 2014 DOI: 10.1177/2326409813517663 Iem.Sagepub.Com
A New Era of Medicine Is Upon Us
Mucopolysaccharidosis Type II
Bone Development and Remodeling in Metabolic Disorders
Two Mutations Within a Feline Mucopolysaccharidosis Type VI Colony Cause Three Different Clinical Phenotypes
Distinct Osmoregulatory Responses to Sodium Loading in Patients with Altered Glycosaminoglycan Structure: a Randomized Cross‑Over Trial Eliane F
The Pathology of the Feline Model of Mucopolysaccharidosis VI
Maroteaux Lamy Syndrome
Mucopolysaccharidosis Type VII
Mucopolysaccharidosis Type IIIB (Sanfilippo B): Identification of 18
Mucopolysaccharidosis Type III
Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors
Hunter Syndrome
Diagnosis of Mucopolysaccharidoses
Mucopolysaccharidosis Type VI
Biochemical Evidence for Superior Correction of Neuronal Storage by Chemically Modified Enzyme in Murine Mucopolysaccharidosis VII
A Systematic Review of Genetic Skeletal Disorders Reported in Chinese
Murine Mucopolysaccharidosis Type VII. Characterization of a Mouse with Beta-Glucuronidase Deficiency
Optic Canal Narrowing in Hunter Syndrome (Mucopolysaccharidosis II)
Mucopolysaccharidosis Type I
Genomic Variability of the Mucopolysaccharidosis Complex in Southwestern Colombia
The Impact of Hunter Syndrome (Mucopolysaccharidosis Type
IDUA Gene Iduronidase, Alpha-L
Mucopolysaccharidosis Type IIIB and Galnac Transferase Double
Mucopolysaccharidosis Type I (MPS I) (Hurler, Hurler-Scheie and Scheie Syndromes)
Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: a Review
GLB1 Gene Galactosidase Beta 1
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
Recombinant Human Β‑Galactosidase‑1/GLB1 Catalog Number: 6464-GH
Alpha-Iduronidase Enzyme Activity (Mucopolysaccharidosis Type I)
Gene Therapy for Inherited Muscle Diseases: Where Genetics Meets Rehabilitation Medicine
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex
PGT-M Disease List
Alpha-L-Iduronidase Deficiency in a Cat: a Model of Mucopolysaccharidosis I
Blueprint Genetics Lysosomal Disorders And
Sanfilippo Syndrome: Current Knowledge and Perspectives For
Mucopolysaccharidosis Type VII
Mucopolysaccharidosis (Mps) Panel
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement