The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

期刊： MOLECULAR GENETICS AND METABOLISM REPORTS, 2021; 27 ()

SHORT syndrome is a rare, multisystem disease named with the acronym arising from short stature, hyperextensibility of joints, ocular depression, Rieg......

Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy

期刊： MOLECULAR GENETICS AND METABOLISM REPORTS, 2020; 24 ()

Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes alpha-galactosidase A. The p.N215S (c.64......

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile -onset Pompe disease: Evidence from real -world experiences

期刊： MOLECULAR GENETICS AND METABOLISM REPORTS, 2020; 23 ()

Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong

期刊： MOLECULAR GENETICS AND METABOLISM REPORTS, 2018; 17 ()

Background and objectives: This retrospective study analysed a case series of subjects with citrin deficiency, and aims to present the molecular and c......

JIF：1.85

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

期刊： MOLECULAR GENETICS AND METABOLISM REPORTS, 2018; 16 ()

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutat......

JIF：1.85