Lv6
2460 积分 2024-11-14 加入
Clinical and genetic features of Classic Galactosemia in the south of Brazil
10天前
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?
1个月前
已关闭
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
1个月前
已完结
The prevalence of Fabry disease in a Turkish population with chronic kidney patients
1个月前
已完结
High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy
2个月前
已完结
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels
2个月前
已完结
30-year follow-up of a patient with classic citrullinemia
2个月前
已完结
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
3个月前
已完结
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