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

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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
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  Data: Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
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  Data: <searchLink fieldCode="AU" term="%22Roach+AN%22">Roach AN</searchLink>; Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA. aroach@uams.edu.<br /><searchLink fieldCode="AU" term="%22Barkley+H%22">Barkley H</searchLink>; Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Rodriquez+C%22">Rodriquez C</searchLink>; Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Burrow+TA%22">Burrow TA</searchLink>; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Anderson+KE%22">Anderson KE</searchLink>; Department of Internal Medicine, Division of Gastroenterology and Hepatology, University of Texas Medical Branch, Galveston Porphyria Laboratory and Center, Galveston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Shukla+A%22">Shukla A</searchLink>; Department of Neonatology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2025 Aug; Vol. 33 (8), pp. 1080-1083. <i>Date of Electronic Publication: </i>2024 Dec 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s41431-024-01758-w
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      – Code: eng
        Text: English
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      – TitleFull: Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
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              Text: 2025 Aug
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              Value: 8
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