Profound hypotonia in an infant with d-aminolevulinic acid dehydratase deficient porphyria.
Roach AN, Barkley H, Rodriquez C, Burrow TA, Anderson KE, Shukla A. Profound hypotonia in an infant with d-aminolevulinic acid dehydratase deficient porphyria. Eur J Hum Genet. 2024 Dec 11.