Genetics and Sensorineural Pathophysiology

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  • Assiri I, Hammoud M, Hakmaoui A, Najeh S, Jakani M, Sabir ES, Lafhal K, Berrachid A, Elfoutat S, del Castillo FJ, Imad N, Ait Sab I, Bourrahouat A, Rodrigues AMS, Houel E, Stien D, Fdil N.

    From guidelines to real-world practice: clinical, biochemical, and genetic insights in a series of Moroccan patients with acid sphingomyelinase deficiency.

    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM . : .

    [doi:10.1515/jpem-2026-0194]