Peripheral Neuropathies
Charcot-Marie-Tooth disease type 1B and other CMT neuropathies associated with MPZ mutations
Dec. 11, 2023
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Summary of the details and clinical presentation of galactose-related lysosomal storage disorders
Legend: red color, reported symptom; pink color, more rare or suspected symptoms; grey color, absent symptom. Numbers of patients in red color indicate numbers calculated using references from OMIM and available literature. Abbreviations: chr, chromosome; Gal, galactose; Glc, glucose; Cer, ceramide; M, million; K, thousand. (Source: Conte F, van Buuringen N, Voermans NC, Lefeber DJ. Galactose in human metabolism, glycosylation, and congenital metabolic diseases: time for a closer look. Biochim Biophys Acta Gen Subj 2021;1865[8]:129898. CC BY License, http://creativecommons.org/licenses/by/4.0.)