Clinical presentation and outcome in a series of 88 patients with the cblC defect

Glutathione metabolism in cobalamin deficiency type C (cblC)

(2013) Anna Pastore et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

(2013) James D. Weisfeld-Adams et al.   MOLECULAR GENETICS AND METABOLISM

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect

(2013) Carlo Dionisi-Vici et al.   MOLECULAR GENETICS AND METABOLISM

Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension

(2013) F. G. Iodice et al.   PEDIATRICS

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes

(2011) Nuria Carrillo-Carrasco et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management

(2011) Nuria Carrillo-Carrasco et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type

(2010) Ana Jorge-Finnigan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease

(2010) Sarah Catharina Grünert et al.   BRAIN & DEVELOPMENT

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

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

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

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

(2009) Eva Richard et al.   HUMAN MUTATION

Cognitive and social profiles in two patients with cobalamin C disease

(2009) M. H. Beauchamp et al.   JOURNAL OF INHERITED METABOLIC DISEASE

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria

(2009) Laurie E. Profitlich et al.   MOLECULAR GENETICS AND METABOLISM

Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type

(2009) Isabelle De Bie et al.   PRENATAL DIAGNOSIS

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