Health ❯ Pediatrics

Rare Diseases

Genetic Disorders Urea Cycle Disorders Metabolic Disorders Wolf-Hirschhorn Syndrome CPS1 Deficiency Innovative Therapies Treatment Options Cancer Treatment Barth Syndrome Diagnosis SMA Treatments Genetic Testing Neuromuscular Disorders

Nature Study Flags ABHD18 Inhibition as a Preclinical Path to Treating Barth Syndrome

Preclinical experiments report reduced MLCL with signs of better mitochondrial and heart function.

Science Advances Study Identifies Pentose Phosphate Pathway Vulnerability in MPNST

Small-Molecule Precursors Restore CoQ10 and Reverse Neurological Decline in HPDL Deficiency

Proteomic Test Cuts Childhood Rare Disease Diagnosis to Under Three Days