Guoda Ma

Biomarker-Guided Diagnosis of Riboflavin Transporter Deficiency Presenting as Seronegative Myasthenia Gravis: A Short Report from a Consanguineous Family

Background: Brown–Vialetto–Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder caused by riboflavin transporter gene variants (SLC52A2, SLC52A3). Early symptoms can mimic neuromuscular junction disorders, causing diagnostic delays. Case Presentation: A 3.5-...

The imperative of newborn screening programs in developing countries: beyond the illusion of health at birth

Newborn screening (NBS) represents one of the most significant achievements in preventive public health, enabling early detection of congenital disorders before symptom onset. While developed nations have established comprehensive NBS programs covering 30–50 conditions, many low-...