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A novel homozygous missense variant in ARSK causes MPS X,a new subtype of mucopolysaccharidosis
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作者 Miao Sun Cornelia K.Kaminsky +5 位作者 Philip Deppe Mai-Brittllse frederic m.vaz Barbara Plecko Torben Lubke Linda M.Randolph 《Genes & Diseases》 SCIE CSCD 2024年第3期87-90,共4页
Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal enzymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage ... Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal enzymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage of glycosaminoglycans in cells throughout the body.This leads to multisystem abnormalities involving bone,connective tissues,brain,blood,spinal cord,skin,and other tissues. 展开更多
关键词 metabolism doses polys
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