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

Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry

(2010) Silvia Tortorelli et al.   JOURNAL OF PEDIATRICS

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder

(2010) D.S. Froese et al.   MOLECULAR GENETICS AND METABOLISM

Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B12 metabolism

(2010) Maria Plesa et al.   MOLECULAR GENETICS AND METABOLISM

Early Onset Methylmalonic Aciduria and Homocystinuria cblC Type With Demyelinating Neuropathy

(2010) Daniele Frattini et al.   PEDIATRIC NEUROLOGY

The tinker, tailor, soldier in intracellular B12 trafficking

(2009) Ruma Banerjee et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

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

A Human Vitamin B12Trafficking Protein Uses Glutathione Transferase Activity for Processing Alkylcobalamins

(2009) Jihoe Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hydroxocobalamin dose escalation improves metabolic control in cblC

(2009) N. Carrillo-Carrasco et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria

(2009) D.S. Froese et al.   MOLECULAR GENETICS AND METABOLISM

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

(2009) Luciana Hannibal et al.   MOLECULAR GENETICS AND METABOLISM

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

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

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

(2009) Isabelle De Bie et al.   PRENATAL DIAGNOSIS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

(2008) Christina Gerth et al.   JOURNAL OF AAPOS

Causes of and diagnostic approach to methylmalonic acidurias

(2008) B. Fowler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Decyanation of vitamin B12 by a trafficking chaperone

(2008) J. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA