Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

(2012) Tamaris Zwickler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Renal transplantation in a boy with methylmalonic acidaemia

(2011) Joanna Clare Clothier et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Acute management of propionic acidemia

(2011) Kimberly A. Chapman et al.   MOLECULAR GENETICS AND METABOLISM

Preoperative Dialysis for Liver Transplantation in Methylmalonic Acidemia

(2011) Koichi Kamei et al.   THERAPEUTIC APHERESIS AND DIALYSIS

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

Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

(2009) S. W. Sauer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term outcome in methylmalonic aciduria: A series of 30 French patients

(2009) M.A. Cosson et al.   MOLECULAR GENETICS AND METABOLISM

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

(2009) Yves de Keyzer et al.   PEDIATRIC RESEARCH

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation

(2009) P. W. Chen et al.   PEDIATRIC TRANSPLANTATION

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

(2008) M.A. Cosson et al.   MOLECULAR GENETICS AND METABOLISM

Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature

(2008) Alireza Radmanesh et al.   PEDIATRIC RADIOLOGY

Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

(2007) Peter J. Mc Guire et al.   MOLECULAR GENETICS AND METABOLISM