Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. Read more about Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
Cumulative incidence rates of the mucopolysaccharidoses in Germany. Read more about Cumulative incidence rates of the mucopolysaccharidoses in Germany.
Magnetic resonance techniques in the assessment of myelin and myelination. Read more about Magnetic resonance techniques in the assessment of myelin and myelination.
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. Read more about Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.
Clinical course and biochemistry of sialuria. Read more about Clinical course and biochemistry of sialuria.
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. Read more about Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. Read more about L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.
Prospects for gene therapy now and in the future. Read more about Prospects for gene therapy now and in the future.
Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I. Read more about Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I.
