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Updated: Jan 12, 2026

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lysinuric蛋白质不耐受:在一种具有新型病原体变异的复合异构体中,异常临床表现

José R Pascual López1, Wilfred Wu1, Laura Konczal1

  • 1Center for Human Genetics, University Hospitals Cleveland Medical Center, 11100 Euclid Avenue, Cleveland, OH, 44106, USA.

Biochemistry and biophysics reports
|November 5, 2025
PubMed
概括

lysinuric蛋白质不耐受,一种氨基酸疾病,导致儿童患有严重的超氨血症. 治疗包括吸剂,饮食变化和补充剂,导致症状缓解和水平正常化.

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