Inherited disorders of lysosomal membrane transporters.
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ABSTRACT:
SUBMITTER: Huizing M
PROVIDER: S-EPMC7508925 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Publications
Inherited disorders of lysosomal membrane transporters.
Huizing Marjan M Gahl William A WA
Biochimica et biophysica acta. Biomembranes 20200508 12
Disorders caused by defects in lysosomal membrane transporters form a distinct subgroup of lysosomal storage disorders (LSDs). To date, defects in only 10 lysosomal membrane transporters have been associated with inherited disorders. The clinical presentations of these diseases resemble the phenotypes of other LSDs; they are heterogeneous and often present in children with neurodegenerative manifestations. However, for pathomechanistic and therapeutic studies, lysosomal membrane transport defect ...[more]
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