Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria

Cobalamin C defect presenting as severe neonatal hyperammonemia

(2010) Diego Martinelli et al.   EUROPEAN JOURNAL OF PEDIATRICS

Cobalamin C defect: natural history, pathophysiology, and treatment

(2010) Diego Martinelli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency

(2010) Antonia H. Bouts et al.   PEDIATRIC NEPHROLOGY

Spectrum of mutations inMMACHC, allelic expression, and evidence for genotype–phenotype correlations

(2009) Jordan P. Lerner-Ellis et al.   HUMAN MUTATION

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

(2009) James D. Weisfeld-Adams et al.   MOLECULAR GENETICS AND METABOLISM

Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism

(2008) Isabelle R. Miousse et al.   JOURNAL OF PEDIATRICS

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

(2008) Célia Nogueira et al.   MOLECULAR GENETICS AND METABOLISM