Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria
Eur J Hum Genet. 2024 Dec 11. doi: 10.1038/s41431-024-01758-w. Online ahead of print. ABSTRACT δ-Aminolevulinic acid (ALA) dehydratase (ALAD) deficient porphyria (ADP) is an extremely …