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diagnosis als disease genetics management neurology pediatrics peds praderwilli sclerosis symptoms syndrome
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
Gaucher Disease ... Pathophsiology ... Osteonecrosis, bone ... infarcts, osteoporosis ... Disease #Diagnosis #Signs
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
clinical findings • Maternal ... Prader-Willi Syndrome Signs ... Infertility • Decr Bone ... mineral density and osteoporosis ... Syndrome #genetics #pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
Amyotrophic Lateral ... examination finding of amyotrophy ... sclerosis Pathophysiology ... Edaravone #ALS #Amyotrophic ... #neurology #diagnosis
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