PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder. Riboflavin-responsive MADD (RR-MADD) represents a treatable subtype, though its molecular mechanisms are incompletely characterized. Case presentation Two patients presented to department of...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Dong-Fang Lin, Huan Sheng, Qiang Qu, Ze-Tao Liao
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-10-01
Edice:	BMC Medical Genomics
Témata:	Multiple acyl-CoA dehydrogenase deficiency Myopathy Positron emission tomography/Computed tomography Exome sequencing Riboflavin
On-line přístup:	https://doi.org/10.1186/s12920-025-02210-8
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!