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Article

Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

Journal of child neurology - 1 Dec 2009

Al-Hassnan Zuhair N, Al Dhalaan Hesham, Patay Zoltan, Faqeih Eissa, Al-Owain Mohammed, Al-Duraihem Adel, Faiyaz-Ul-Haque Mohammed

Abstract excerpt

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-...

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Source

Identifiers

PMID: 19955343
DOI: 10.1177/0883073809341269

Genes

PSAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19955343-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.PMID 19955343Read ↗

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Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

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