Associated Papers
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.
Al-Tai MR et al.
Molecular Genetics and Metabolism Reports, 2025
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.
Esser AJ et al.
Iscience, 2022
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH1T1
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Brooks BP et al.
Ophthalmology, 2016
The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.
Marini NJ et al.
Plos Genetics, 2010
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Nogueira C et al.
Molecular Genetics and Metabolism, 2008
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