Associated Papers
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.
Esser AJ et al.
Iscience, 2022
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Beck BB et al.
Pediatric Nephrology (berlin, Germany), 2017
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
Manoli I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Brooks BP et al.
Ophthalmology, 2016
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Weisfeld-Adams JD et al.
Molecular Genetics and Metabolism, 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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