Clinical features and management of organic acidemias in Japan

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

(2013) Jun Kido et al.   JOURNAL OF HUMAN GENETICS

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

(2013) Sarah C Grünert et al.   Orphanet Journal of Rare Diseases

Survey of health status and complications among propionic acidemia patients

(2012) Loren Pena et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Methylmalonate impairs mitochondrial respiration supported by NADH-linked substrates: Involvement of mitochondrial glutamate metabolism

(2012) Daniela R. Melo et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Neurocognitive Phenotype of Isolated Methylmalonic Acidemia

(2012) C. J. O'Shea et al.   PEDIATRICS

Methylmalonic acidemia and hyperglycemia: An unusual association

(2011) Marouani Imen et al.   BRAIN & DEVELOPMENT

Propionic acidemia: neonatal versus selective metabolic screening

(2011) S. C. Grünert et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term outcome and intervention of urea cycle disorders in Japan

(2011) Jun Kido et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Chronic management and health supervision of individuals with propionic acidemia

(2011) V. Reid Sutton et al.   MOLECULAR GENETICS AND METABOLISM

Acute management of propionic acidemia

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

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

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

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

(2008) T. Zwickler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia

(2008) Ni-Chung Lee et al.   PEDIATRIC NEUROLOGY