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Aspartylglucosaminuria
An in Vitro Model for Lysosomal Storage Diseases Using Aspartylglucosaminuria Patient Cells
Fast Urinary Screening of Oligosaccharidoses by MALDI-TOF/TOF Mass Spectrometry
International Conference
Oligosaccharide Screen, Urine
Allo HCT for Metabolic Disorders and Severe Osteopetrosis Status: Recruiting
A Case Report
Human Xc-N-Acetylgalactosaminidase Qx-NAGA)
The Myriad Foresight® Carrier Screen
SSIEM Classification of Inborn Errors of Metabolism 2011
Collectively Common, Individually Rare Many
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I
Lysosomal Storage Disorders Diagnostic Algorithm, Part 2
Sialidosis Type I Presenting with a Novel Mutation and Advanced Neuroimaging Features
Emerging Trends in Transplantation of Inherited Metabolic Diseases
Lysosomal Storage Disease Panel by Next-Generation Sequencing
Clinico-Radiological Phenotyping and Diagnostic Pathways in Childhood Neurometabolic Disorders—A Practical Introductory Guide
Metabolic Disorders (Children)
Glycoprotein Lysosomal Storage Disorders: K- and L-Mannosidosis, Fucosidosis and K-N-Acetylgalactosaminidase De¢Ciency
Top View
TPA-2012-4I NG:Layout 1
Seven Additional Newborn Screening Disorders Coming to NJ: Are You Ready?
Original Article Compound Heterozygous GNPTAB Mutations Cause Mucolipidosis II Or III Alpha/Beta in Two Chinese Families
Prospects of Carrier Screening of Aspartylglucosaminuria in Finland
Lysosomal Storage Diseases ª the Author(S) 2014 DOI: 10.1177/2326409813517663 Iem.Sagepub.Com
Characterization of Mesenchymal Stem Cells in Mucolipidosis Type II (I-Cell Disease)
What Are Glycoprotein Storage Diseases?
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
Metabolske Sykdommer V02
Diagnosis of Fucosidosis Through a Skin Rash
Benign Fibrous Histiocytoma Occurred in the Alveolar Mucosa
Gene Therapy for Pediatric Diseases
Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Lysosomal Storage Disorders: the Cellular Impact of Lysosomal Dysfunction
Physician's Guide to the Diagnosis, Treatment, and Follow-Up Of
The Potential Investment Impact of Improved Access to Accelerated
Lysosomal Storage Diseases Carlos Ferreira George Washington University
Lysosomal Storage Diseases
Invitae Carrier Screening (Continued)
1 GENETIC CAUSES of DILATED CARDIOMYOPATHY Supplemental
I. Introduction II. Methods III. Results and Discussion II. Materials And
December 2005
Lysosomal Storage Disease in the Brain: Mutations of the Β-Mannosidase Gene Identified in Autosomal Dominant Nystagmus
Download Article (PDF)
190 Allogeneic Hematopoietic Stem Cell Transplantation for Genetic
Gene Therapy for Lysosomal Storage Disorders with Neuropathology
Aspartylglycosaminuria: a Review Maria Arvio1,2,3* and Ilkka Mononen4,5,6
Blueprint Genetics Lysosomal Disorders And
Molecular Genetics and Metabolism 117 (2016) 221–298