Associated Papers
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.
Esser AJ et al.
Iscience, 2022
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Matmat K et al.
Human Genetics, 2022
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
Scalais E et al.
Jimd Reports, 2019
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Beck BB et al.
Pediatric Nephrology (berlin, Germany), 2017
Molecular picture of cobalamin C/D defects before and after newborn screening era.
Nogueira C et al.
Journal of Medical Screening, 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
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.
Tanpaiboon P et al.
Jimd Reports, 2013
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
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF et al.
Molecular Genetics and Metabolism, 2006
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