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1466 积分 2024-08-12 加入
[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I]
2个月前
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A diagnostic flow chart forPOLG-related diseases based on signs sensitivity and specificity
2个月前
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Type 1 Tyrosinaemia
2个月前
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[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]
2个月前
已完结
Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB
2个月前
已完结
ASM variants in the spotlight: A structure-based atlas for unraveling pathogenic mechanisms in lysosomal acid sphingomyelinase
2个月前
已完结
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss
3个月前
已完结
Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2
3个月前
已完结
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency]
3个月前
已完结
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency]
3个月前
已关闭
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