Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants

Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry

(2014) Lianshu Han et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

(2014) Matthias R Baumgartner et al.   Orphanet Journal of Rare Diseases

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

(2012) Nithiwat Vatanavicharn et al.   MOLECULAR GENETICS AND METABOLISM

Clinical characteristics and gene mutation analysis of methylmalonic aciduria

(2011) Qin Yi et al.   Journal of Huazhong University of Science and Technology-Medical Sciences

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

(2011) Ina Knerr et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Structures of the Human GTPase MMAA and Vitamin B12-dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

(2010) D. Sean Froese et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

(2009) F. Hörster et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

(2009) L. Filippi 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

Causes of and diagnostic approach to methylmalonic acidurias

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

Organic Acidemias: A Methylmalonic and Propionic Focus

(2008) Lori Van Gosen   Journal of Pediatric Nursing-Nursing Care of Children & Families