Abbreviations: BMI, body mass index; HDL-C, high-density lipoprotein cholesterol; HOMA-B, the homeostasis model assessment for β-cell function; HOMA-IR, the homeostasis model assessment for insulin re

NIAID Data Ecosystem50

Number of available tests per gene in the GTR.

代谢疾病诊断

基因检测资源评估

The expansion of next-generation sequencing has generated vast genomic datasets, but translating this information into clinically actionable tools for inherited metabolic disorders (IMDs) remains chal

NIAID Data Ecosystem30

Table_4_A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.DOCX

代谢疾病诊断

运动障碍评估

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

Datset relate to article "3-METHYLGLUTACONIC ACIDURIA TYPE I: A RARE CAUSE OF LATE-ONSET LEUKOENCEPHALOPATHY"

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