Associated Papers
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
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.
Noureldeen MM et al.
Italian Journal of Pediatrics, 2025
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K et al.
Jci Insight, 2024
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
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
PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population.
Zhao YW et al.
Brain : a Journal of Neurology, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B.
Aldosari KH et al.
Neurosciences (riyadh, Saudi Arabia), 2020
Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis.
Madaan P et al.
Neuropediatrics, 2019
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
Kolnikova M et al.
Journal of Molecular Neuroscience : Mn, 2019
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R et al.
Journal of Neurology, 2015
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
Molecular genetics of metachromatic leukodystrophy.
Gieselmann V et al.
Human Mutation, 1994
Mutations in two cysteine-histidine-rich clusters in adenovirus type 2 DNA polymerase affect DNA binding.
Joung I et al.
Journal of Virology, 1992