Molecular Genetics And Metabolism

Tissue acylcarnitine status in a mouse model of mitochondrial beta-oxidation deficiency during metabolic decompensation due to influenza virus infection

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Acute hepatic porphyrias: Current diagnosis & management

Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropy1-beta-cyclodextrin

Congenital erythropoietic porphyria: Recent advances

Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases

Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation

Development and clinical consequences of white matter lesions in Fabry disease: a systematic review

Tandem mass spectrometry-based multiplex assays for alpha-mannosidosis and fucosidosis