Journal of Inherited Metabolic Disease
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
A series of pregnancies in women with inherited metabolic disease
An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1
Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
Bone development in children and adolescents with PKU
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms
Deletion of GPIHBP1 causing severe chylomicronemia
Erratum to: Females experience a more severe disease course in batten disease
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
Females experience a more severe disease course in batten disease
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB1 alleles causing GM1-gangliosidosis and Morquio B disease
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model
Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy
Oxidative stress in Phenylketonuria: future directions
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 – a hypothesis
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated
Wernicke-like encephalopathy during classic maple syrup urine disease decompensation
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria