Lv64
2560 积分 2024-11-14 加入
Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin
2天前
已完结
Severe Hb H Disease Caused by Hb Zürich–Albisrieden (HBA1: c.178G>C): Another Case Report
7天前
已完结
Colchicine as a treatment option for inherited epidermolysis bullosa
20天前
已完结
Clinical and genetic features of Classic Galactosemia in the south of Brazil
1个月前
已关闭
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study
1个月前
已完结
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
1个月前
已完结
Sequence diversity ofKIAA0027/MLC1:are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
2个月前
已关闭
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
2个月前
已完结
The prevalence of Fabry disease in a Turkish population with chronic kidney patients
2个月前
已完结
High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy
2个月前
已完结
皖公网安备34019202002308
