Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria

δ-Aminolevulinic acid (ALA) dehydratase (ALAD) deficient porphyria (ADP) is an extremely rare form of porphyria, with only eight documented cases. Herein, we report the second known case of ADP in the Western hemisphere and third case with infantile onset of symptoms. A male neonate presented on day...

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Veröffentlicht in:	European journal of human genetics : EJHG 2024-12
Hauptverfasser:	Roach, Alexis N, Barkley, Hannah, Rodriquez, Carissa, Burrow, T Andrew, Anderson, Karl E, Shukla, Ankita
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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