Daniels Muir

To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia.

Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect…[Read more]

To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia.

Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect…[Read more]

To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia.

Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect…[Read more]

To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia.

Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect…[Read more]