Associated Papers
Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.
Yuan Y et al.
Bmc Pediatrics, 2024
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.
Esser AJ et al.
Iscience, 2022
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
Zhang C et al.
Scientific Reports, 2020
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
The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.
Huemer M et al.
Journal of Inherited Metabolic Disease, 2019
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Beck BB et al.
Pediatric Nephrology (berlin, Germany), 2017
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
Inborn errors of cobalamin absorption and metabolism.
Watkins D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF et al.
Molecular Genetics and Metabolism, 2006
Acquired and inherited disorders of cobalamin and folate in children.
Whitehead VM
British Journal of Haematology, 2006
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