An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
HMG-CoA lyase deficiency
HMGCL
HMGLD
NGS
inherited metabolic diseases
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
28 Aug 2021
28 Aug 2021
Historique:
received:
25
05
2021
revised:
31
07
2021
accepted:
24
08
2021
entrez:
28
9
2021
pubmed:
29
9
2021
medline:
29
9
2021
Statut:
epublish
Résumé
3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Lyase deficiency (HMGLD) (OMIM 246450) is an autosomal recessive genetic disorder caused by homozygous or compound heterozygous variants in the
Identifiants
pubmed: 34573903
pii: diagnostics11091561
doi: 10.3390/diagnostics11091561
pmc: PMC8469356
pii:
doi:
Types de publication
Case Reports
Langues
eng
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