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Tác giả: Danijela Dejanovic, Morten Dunø, Astrid Høj, Sonja Holm-Yildiz, Thomas Krag, Nicoline Løkken, Mette Cathrine Ørngreen, Thomas van Overeem Hansen, John Vissing

Ngôn ngữ: eng

Ký hiệu phân loại: 627.12 Rivers and streams

Thông tin xuất bản: United States : JIMD reports , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 57356

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late-onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late-onset symptom debut at 52 years of age. Over 5 months, the patient deteriorated from asymptomatic to almost complete loss of ambulation. He had a substantial weight loss, head-drop, progressive proximal limb and chewing weakness. Due to the rapid progression, amyotrophic lateral sclerosis, myositis, myasthenia gravis and a paraneoplastic syndrome in relation to underlying malignancy were considered first. A 2-[
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