{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:03:56Z","timestamp":1777802636722,"version":"3.51.4"},"reference-count":21,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:p>Mutated PSAP gene resulting in sphingolipid activator protein B deficiency is known to cause metachromatic leukodystrophy variant in which arylsulfatase A is normal. Of 16 patients with metachromatic leukodystrophy that were evaluated in our center, 7 patients were diagnosed with arylsulfatase A\u2014deficient metachromatic leukodystrophy, whereas 9 children from 4 unrelated Saudi families were found to have sphingolipid activator protein B deficiency. PSAP analysis found that the 4 families segregate the same homozygous mutation that was a g.722G&gt;C transversion resulting in C241S change, which was previously reported in an Arab patient. Our work, which reports the largest series of patients with sphingolipid activator protein B deficiency, suggests that this variant is likely to be more common than arylsulfatase A\u2014deficient metachromatic leukodystrophy in Arabs, a notion that has potential diagnostic and preventive implications.<\/jats:p>","DOI":"10.1177\/0883073809341269","type":"journal-article","created":{"date-parts":[[2009,12,2]],"date-time":"2009-12-02T13:39:38Z","timestamp":1259761178000},"page":"1513-1519","source":"Crossref","is-referenced-by-count":13,"title":["Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature"],"prefix":"10.1177","volume":"24","author":[{"given":"Zuhair N.","family":"Al-Hassnan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia, , College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hesham","family":"Al Dhalaan","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoltan","family":"Patay","sequence":"additional","affiliation":[{"name":"Department of Radiology, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eissa","family":"Faqeih","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Al-Owain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adel","family":"Al-Duraihem","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Faiyaz-Ul-Haque","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2009,12,2]]},"reference":[{"key":"atypb1","unstructured":"Figura KV, Gieselmann V., Jaeken J. Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic & Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:3695-3724."},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293061"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<475::AID-AJMG20>3.0.CO;2-C"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197910000-00021"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410120106"},{"key":"atypb6","unstructured":"Sandhoff K., Kotler T., Harzer K. Sphingolipids activator proteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic & Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001:3371-3388."},{"issue":"4","key":"atypb7","first-page":"281","volume":"55","author":"Hahn AF","year":"1981","journal-title":"Light and electron microscopic findings in a sural nerve biopsy. 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