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170 积分 2023-11-29 加入
[Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency]
3个月前
已完结
[Genetic analysis of a patient with late infantile metachromatic leukodystrophy]
3个月前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
3个月前
已完结
Characterization of Mutant Holocarboxylase Synthetase (HCS): AKm for Biotin Was Not Elevated in a Patient with HCS Deficiency
3个月前
已关闭
Delayed-Onset ADA1 (ADA) Deficiency Not Detected by TREC Screen
3个月前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
3个月前
已完结
Advancements and future directions in Oguchi disease research
3个月前
已完结
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