解脱 发表于 2025-3-26 21:10:16
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David A. Schmidtgene. This enzyme catalyzes the initial step in the catabolism of heparan sulfate and dermatan sulfate; thus, its deficiency leads to the accumulation of these glycosaminoglycans. MPS II has significant allelic heterogeneity, making the establishment of genotype-phenotype correlations difficult. Thiexpansive 发表于 2025-3-27 21:01:10
Valentin F. Turchinildhood before the age of 20. Typical clinical presentation includes nyctalopia caused by retinitis pigmentosa, and anosmia. After 10–15 years, deafness, cerebellar ataxia, polyneuropathy, ichthyosis, and cardiac arrhythmia can occur..We report the case of a very late-onset adult Refsum disease presDappled 发表于 2025-3-28 01:59:05
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Lecture Notes in Computer Sciencehttp://image.papertrans.cn/s/image/864760.jpgLament 发表于 2025-3-28 06:48:11
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978-3-540-10250-2Springer-Verlag Berlin Heidelberg 1980