DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay

MeSH terms

• Asian People
• Carrier Proteins / genetics*
• Child, Preschool
• DNA / analysis
• Homocystinuria / diagnosis
• Homocystinuria / genetics*
• Humans
• Male
• Metabolism, Inborn Errors / diagnosis*
• Metabolism, Inborn Errors / genetics
• Metabolism, Inborn Errors / urine
• Methylmalonic Acid / urine*
• Mutation
• Oxidoreductases