Lv5
1600 积分 2024-06-12 加入
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability
18天前
已完结
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries
19天前
已关闭
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man
21天前
已完结
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment
21天前
已完结
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine
27天前
已关闭
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
27天前
已完结
National UK guidelines for the management of paediatric craniopharyngioma
1个月前
已完结
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience
3个月前
已完结
Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review
3个月前
已完结
皖公网安备34019202002308
