An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

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 <i>HMGCL</i> gene located on 1p36.11. Clinically, this disorder is characterized by a life-threatening metabolic in...

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Hlavní autoři:	Nassim Boutouchent, Julie Bourilhon, Bénédicte Sudrié-Arnaud, Antoine Bonnevalle, Lucie Guyant-Maréchal, Cécile Acquaviva, Loréna Dujardin-Ippolito, Soumeya Bekri, Ivana Dabaj, Abdellah Tebani
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2021-08-01
Edice:	Diagnostics
Témata:	HMGLD <i>HMGCL</i> HMG-CoA lyase deficiency NGS inherited metabolic diseases
On-line přístup:	https://www.mdpi.com/2075-4418/11/9/1561
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