10: Types A and B Niemann–Pick Disease

Aug 6, 2016 by in HEMATOLOGY Comments Off on 10: Types A and B Niemann–Pick Disease

Type A A 3-month-old previously well boy was noted to have hepatosplenomegaly during a routine pediatric visit. Over the next several months, the infant acquired developmental milestones appropriately and learned…

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1: The Lysosomal System: Physiology and Pathology

Aug 6, 2016 by in HEMATOLOGY Comments Off on 1: The Lysosomal System: Physiology and Pathology

The canonical endocytic pathway progresses along an increasing lumen-acidic gradient from early endosomes retrogradely trafficked from the plasma membrane, to multivesicular bodies or late endosomes, and finally to perinuclear-localized lysosomes….

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3: Laboratory Diagnosis of Lysosomal Storage Diseases

Aug 6, 2016 by in HEMATOLOGY Comments Off on 3: Laboratory Diagnosis of Lysosomal Storage Diseases

Related posts: 18: Neuronal Ceroid Lipofuscinoses 17: Lysosomal Membrane Defects 8: The Gangliosidoses 5: Classification of Lysosomal Storage Diseases 24: The Patient Perspective on Rare Diseases 12: The Mucopolysaccharidoses

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