Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

Medicine and Dentistry

• Autosomal Recessive Disorder 50%
• Base 50%
• Disease Exacerbation 50%
• Diseases 50%
• Early Diagnosis 50%
• False Positive Result 50%
• Guanidinoacetate Methyltransferase Deficiency 100%
• Indel Mutation 50%
• Neurological Complication 100%
• Neurometabolic Disease 100%
• Newborn Period 50%
• Newborn Screening 100%

Biochemistry, Genetics and Molecular Biology

• Anabolism 50%
• Autosomal Recessive Disorder 50%
• Indel 50%
• Methyltransferase 100%
• Newborn Period 50%
• Newborn Screening 100%