Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S et al.
Orphanet Journal of Rare Diseases, 2018
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2015
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