Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) mov

NIAID Data Ecosystem90

combined methylmalonic acidemia and homocysteinemia

代谢疾病诊断

代谢物生物标志物分析

Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of me

NIAID Data Ecosystem40

Supplementary Data from Utility of the C-peptide/insulin molar ratio for distinguishing type A insulin resistance syndrome from type 2 diabetes

代谢疾病诊断

生物标志物鉴别

This dataset includes supplemental tables (Table S1–S4) for the manuscript entitled 'Utility of the C-peptide/insulin molar ratio for distinguishing type A insulin resistance syndrome from type 2 diab

DataCite Commons2024-12-25 更新110

Additional file 2 of Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center

新生儿筛查

代谢疾病诊断

Supplementary Material 2: Table S2. List of diseases subjected to NBS in Italy.

Figshare2025-01-25 更新50