Associated Papers
Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.
Taha HB et al.
Journal of Molecular Medicine (berlin, Germany), 2026
Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.
Yoldas Celik M et al.
Journal of Child Neurology, 2025
Two Novel Mutations in the PSAP Gene Causing a Metachromatic Leukodystrophy (MLD)-like Phenotype and a Review of the Literature.
Dragoumi P et al.
Neurology India, 2025
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.
Sheth J et al.
Jimd Reports, 2023
Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.
Hvid K et al.
Acta Ophthalmologica, 2020
Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.
Fenu S et al.
Neurology, 2019
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
Kolnikova M et al.
Journal of Molecular Neuroscience : Mn, 2019
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
Transcript variants, expression, and polymorphisms of the pig prosaposin gene.
Fang M et al.
Dna and Cell Biology, 2011
Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.
Al-Hassnan ZN et al.
Journal of Child Neurology, 2009
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
Deconinck N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2008
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
Regis S et al.
European Journal of Human Genetics : Ejhg, 0
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