ARTICLE
|
doi:10.20944/preprints202302.0255.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
Aspartylglucosaminuria; lysosomal storage disorders; biomarkers; protein glycosylation; enzymes
Online: 15 February 2023 (07:54:15 CET)
REVIEW
|
doi:10.20944/preprints202001.0315.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
succinic semialdehyde dehydrogenase deficiency; gamma-amino butyric acid; organic acidurias; enzyme replacement therapy; pharmacological chaperones; clinical trials; autophagy
Online: 26 January 2020 (08:10:19 CET)