We have reviewed the literature and have identified more than 100 diseases or conditions
that are associated with raised concentrations of plasma total homocysteine. The …

Rare diseases, such as inherited metabolic diseases, have been identified as a health
priority within the European Union more than 20 years ago and have become an integral …

Most rare clinical missense variants cannot currently be classified as pathogenic or benign.
Deficiency in human 5, 10-methylenetetrahydrofolate reductase (MTHFR), the most common …

Thromboembolic manifestations are relatively frequent in patients with intermediate/severe
hyperhomocysteinemia (> 30 µmol/L) related to inherited disorders and deficiencies in …

Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM# 277400) is the
most common disorder of cobalamin intracellular metabolism, an autosomal recessive …

Analytical and therapeutic innovations led to a continuous but variable extension of newborn
screening (NBS) programmes worldwide. Every extension requires a careful evaluation of …

This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …

高同型半胱氨酸血症是一组常见的代谢病, 包括遗传性和非遗传性两大类.
在遗传性高同型半胱氨酸血症中, 胱硫醚β-合成酶缺乏症, 亚甲基四氢叶酸还原酶缺乏症和 …

Background The minimum data set (MDS) is a collection of data elements to be grouped
using a standard approach to allow the use of data for clinical and research purposes …

Methylenetetrahydrofolate reductase (MTHFR) is a pivotal enzyme in the one-carbon
metabolism, a metabolic pathway required for DNA synthesis and methylation reactions …