Associated Papers
Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.
Acar IE et al.
Investigative Ophthalmology & Visual Science, 2023
37975850 (PubMed )
Supplement: iovs-64-14-24_s003.xlsx › Supplementary_Table_15
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.
Esser AJ et al.
Iscience, 2022
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Wiedemann A et al.
Cell Reports. Medicine, 2022
35764087 (PubMed )
Supplement: mmc4.pdf
Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.
Wang SJ et al.
Neuropsychiatric Disease and Treatment, 2019
Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.
Voynova NE et al.
Archives of Biochemistry and Biophysics, 2008
Structural and kinetic characterization of quinolinate phosphoribosyltransferase (hQPRTase) from homo sapiens.
Liu H et al.
Journal of Molecular Biology, 2007
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