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Mucolipidosis
Fucosidosis: Ultrastructural Study of Conjunctiva and Skin and Enzyme Analysis of Tears
Mucopolysaccharidoses and Mucolipidoses
International Conference
Cherry-Red Spot Myoclonus Syndrome and A-Neuraminidase Deficiency
The Myriad Foresight® Carrier Screen
I-Cell Disease): a Rare Condition Resembling Hurler Syndrome: a Case Report S Yang, TW Yeung, HY Lau Department of Radiology, Tuen Mun Hospital, Tuen Mun, Hong Kong
SSIEM Classification of Inborn Errors of Metabolism 2011
High Proportion of Mannosidosis and Fucosidosis Among Lysosomal Storage Diseases in Cuba
A GNPTAB Nonsense Variant Is Associated with Feline Mucolipidosis II (I-Cell Disease) Ping Wang* , Hamutal Mazrier, Jessica Caverly Rae, Karthik Raj and Urs Giger
Emerging Trends in Transplantation of Inherited Metabolic Diseases
Lysosomal Storage Disorders Screen Interpretive Algorithm
Lysosomal Storage Disease Panel by Next-Generation Sequencing
DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases
Genes Associated with Neuraminidase-Deficiency Disorders (Sialidase/Gene Mapping/Complementation Analysis) 0
Mucolipidoses Overview: Past, Present, and Future
Metabolic Disorders (Children)
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
Top View
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)
Neuraminidase Deficiency: Case Report and Review of the Phenotype
What Are Glycoprotein Storage Diseases?
I-Cell Disease-Mucolipidosis II NEIL GORDON M.D., F.R.C.P
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
October 2016
Benign Fibrous Histiocytoma Occurred in the Alveolar Mucosa
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Exploratory Investigation and Inherited Metabolic Diseases
Lysosomal Storage Diseases Carlos Ferreira George Washington University
2017 95-98 Galactosialidosis in a Newborn with A
Lysosomal Storage Diseases
Mouse Model for the Lysosomal Disorder Galactosialidosis and Correction of the Phenotype with Overexpressing Erythroid Precursor Cells
Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: a Review
Fibroblasts by Specific Lectin Binding in Lysosomal Storage Diseases
190 Allogeneic Hematopoietic Stem Cell Transplantation for Genetic
Gene Therapy for Lysosomal Storage Disorders with Neuropathology
Blueprint Genetics Lysosomal Disorders And
(I-Cell Disease): Ultrastructural Observations of Conjunctiva and Skin