Search Results - "autosomal-recessive inheritance"

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  1. 1
    GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case

    GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case by Artem A. Babkin, Vladimir A. Shcherbak, Elena V. Leontieva, Lada A. Kirii

    Published 2024-09-01
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    Late-onset Pompe disease: first clinical description in Russia

    Late-onset Pompe disease: first clinical description in Russia by S. S. Nikitin, M. O. Kovalchuk, E. U. Zaharova, V. V. Tsivileva

    Published 2015-02-01
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    Adolescent late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting with severe multi-organ failure: a case report

    Adolescent late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting with severe multi-organ failure: a case report by Yunhua Zhao, Yunhua Zhao, Zhichao Li, Zhichao Li, Lili Cui, Jun Chen, Jun Chen, Wangtao Zhong, Wangtao Zhong

    Published 2025-07-01
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