Lv4
406 积分 2023-02-01 加入
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
16天前
已完结
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene
16天前
已完结
The molecular bases of cystinuria and lysinuric protein intolerance
16天前
已完结
Early‐onset Hepatic Fibrosis in Lysinuric Protein Intolerance
16天前
已完结
Vascular endothelial dysfunction resulting from l-arginine deficiency in a patient with lysinuric protein intolerance
16天前
已完结
Digital clubbing without hypoxia for lysinuric protein intolerance
16天前
已完结
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
16天前
已完结
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14
16天前
已完结
Dysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport
16天前
已完结
Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea
16天前
已完结
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