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
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
Clinical and Genetic Characteristics of Leukodystrophies in Africa.
Amin M et al.
Journal of Neurosciences in Rural Practice, 2017
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
Siri L et al.
Neurogenetics, 2014
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prasad S et al.
American Journal of Medical Genetics. Part A, 2004
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