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Sphingolipidoses
Sphingolipid Metabolism Diseases ⁎ Thomas Kolter, Konrad Sandhoff
The Metabolism of Tay-Sachs Ganglioside: Catabolic Studies with Lysosomal Enzymes from Normal and Tay-Sachs Brain Tissue
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
Hyperglycopeptiduria in Genetic Mucolipidoses
Correction of the Enzymic Defect in Cultured Fibroblasts from Patients with Fabry's Disease: Treatment with Purified A-Galactosidase from Ficin
Mucopolysaccharidoses and Mucolipidoses
A New Simultaneous Measurement of Lysosphingolipids by LC-MS/MS
Sphingolipidoses
Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
Lysosomal Storage Disorders
Enzyme Defects in the Sphingolipidoses and Their Application to Diagnosis*
Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions
Globoid Cell Leukodystrophy: Deficiency of Lactosyl Ceramide
DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases
Abnormal Sphingolipid World in Inflammation Specific for Lysosomal
Highlights on Genomics Applications for Lysosomal Storage Diseases
Confirmatory Studies in the Prenatal Diagnosis of Sphingolipidoses
Advances in the Diagnosis and Treatment of Krabbe Disease
Top View
SPHINGOLIPIDOSES Learning Objective Enlist the Disorders With
Sphingolipidoses
CRISPR-Cas9 Editing As an Option for Modelling and Therapy
I-Cell Disease-Mucolipidosis II NEIL GORDON M.D., F.R.C.P
GM2 Gangliosidosis: Clinical Features and Current Therapies
Demographic Characteristics and Distribution of Lysosomal Storage Disorder Subtypes in Eastern China
Lysosomal Lipid Storage Diseases
The Efficacy of Gene Therapy to Treat Fabry Disease
Autophagy in Lysosomal Storage Disorders
Sphingolipidoses
Clinical Characteristics of 248 Patients with Krabbe Disease: Quantitative Natural History Modeling Based on Published Cases
Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: a Critical Review with Future Perspectives
Pathophysiology of Krabbe Disease
Gene Therapy for Lysosomal Storage Disorders with Neuropathology
Sphingolipidoses
(I-Cell Disease): Ultrastructural Observations of Conjunctiva and Skin
Sphingolipid Lysosomal Storage Diseases
Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery