JIMD reports

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
碱性磷酸酶和婴儿 GM1 神经节苷脂贮积症:复杂疾病的简单生物标志物?

Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias.
通过气相色谱-串联质谱 (GC-MS/MS) 定量琥珀酰乙酮测量可促进 1 型酪氨酸血症和其他高琥珀酰乙酮血症的诊断、监测和表征。

Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib.
晚期诊断的受 GSD Ib 减弱影响的兄弟姐妹的临床结果和治疗。