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

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Bibliographic Details
Title: Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
Authors: Roach AN; Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA. aroach@uams.edu., Barkley H; Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Rodriquez C; Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Burrow TA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Anderson KE; Department of Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston Porphyria Laboratory and Center, Galveston, TX, USA., Shukla A; Department of Neonatology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Aug; Vol. 33 (8), pp. 1080-1083. Date of Electronic Publication: 2024 Dec 11.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-024-01758-w