Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the
ACADVL
VLCAD
VLCADD
lipid myopathy
myoglobinuria
rhabdomyolysis
Journal
Brain sciences
ISSN: 2076-3425
Titre abrégé: Brain Sci
Pays: Switzerland
ID NLM: 101598646
Informations de publication
Date de publication:
08 Aug 2023
08 Aug 2023
Historique:
received:
26
06
2023
revised:
30
07
2023
accepted:
06
08
2023
medline:
26
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the
Identifiants
pubmed: 37626534
pii: brainsci13081178
doi: 10.3390/brainsci13081178
pmc: PMC10452278
pii:
doi:
Types de publication
Case Reports
Langues
eng
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