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Publications by Jennifer L. Cohen
Early Diagnosis of Infantile-Onset Lysosomal Acid Lipase Deficiency in the Advent of Available Enzyme Replacement Therapy
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
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The Disease Is the Accumulation of Cholesterol Esters Due to Deficit of Lysosomal Acid Lipase. Clinical Case of Lysosomal Acid Lipase Deficiency Is Described in This Article
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Enzyme Replacement Therapy for Late-Onset Pompe Disease
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Lysosomal Acid Lipase Deficiency Unmasked in Two Children With Nonalcoholic Fatty Liver Disease
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Promising CNS-directed Enzyme Replacement Therapy for Lysosomal Storage Diseases
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Late-Onset Pompe Disease: Preliminary Results of Enzyme Replacement Therapy
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Lysosomal Acid Lipase (Acid Cholesterol Ester Hydrolase)
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Long Term Substrate Reduction Therapy With Ezetimibe Alone or Associated With Statins in Three Adult Patients With Lysosomal Acid Lipase Deficiency
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Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy
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773 BOVINE Α-Glucosidase DEFICIENCY: A MODEL FOR ENZYME REPLACEMENT THERAPY
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