Lv3
304 积分 2024-03-11 加入
Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT : 31 Pediatric Patients and 16 Novel Variants
3天前
已关闭
Adult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease
16天前
已完结
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
1个月前
已完结
A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies
2个月前
已关闭
A case of early-onset idiopathic chronic pancreatitis associated with a loss-of-function TRPV6 p.R483Q variant successfully treated by pancreatic duct stenting
2个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
2个月前
已完结
A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX
2个月前
已完结
From mutation to management: Advancing Langerhans cell histiocytosis treatment through combination therapies
2个月前
已完结
Treatment of Langerhans cell histiocytosis with subcutaneous cytarabine
2个月前
已关闭
Targeted Therapy in Pediatric Langerhans Cell Histiocytosis: Describing a Novel Strategy to Minimize Long‐Term Exposure While Maintaining Efficacy
2个月前
已关闭
皖公网安备34019202002308
