Clinicians in Japan described the course of a pregnancy in a woman with FCS caused by the rare apo CII Wakayama mutation.

NGS-based MRD positivity 1 month after transplantation independently predicted relapse and mortality in patients with MDS and ...

A 55-CpG DNA methylation signature stratified myelodysplastic syndrome (MDS) risk and predicted acute myeloid leukemia ...

Osteoblast dysfunction may contribute directly to bone pathology in Gaucher disease (GD), as researchers demonstrated using a ...

Global cases of rare neurologic diseases in children grew from 1990 to 2021, with greater increases in boys and low-middle ...

PHOENIX—Mikhail Oskarovich Varshavski, MD, known as “Doctor Mike” to his 25 million followers on YouTube, Instagram, and ...

Lower grip strength independently predicted poorer overall survival in patients with MDS beyond established disease and ...

For years, caring for her son with ALGS consumed her days, Now that things have stabilized, a mom searches for a sense of ...

First-tier WGS may reduce hospital stays and lower costs for infants with suspected metabolic or neuromuscular disorders such as TK2d.

New research explores what happens when patients consult AI about their health concerns. It inspired me to try an experiment ...

Nutrition education and encouraging pregnant women to engage in antenatal care are key ways to ensure maternal health and ...