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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Glutaric aciduria type 1: a clinician's view of progress.
Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.