[Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum].

Objective: To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC).

Methods: A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected.

Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Background: Pompe disease is a rare, progressive, and life-threatening autosomal recessive disorder. In its late-onset form, the disease is primarily characterised by mild progressive proximal limb and respiratory muscle weakness. Mutations in the acid alpha-glucosidase () gene cause lysosomal enzyme GAA to be significantly reduced or missing altogether, for which supplementation can be given through enzyme replacement therapy.

Recent Advances in Biotransformation of Saponins.

Saponins are a class of glycosides whose aglycones can be either triterpenes or helical spirostanes. It is commonly recognized that these active ingredients are widely found in various kinds of advanced plants. Rare saponins, a special type of the saponins class, are able to enhance bidirectional immune regulation and memory, and have anti-lipid oxidation, anticancer, and antifatigue capabilities, but they are infrequent in nature.