ARTICLE
|
doi:10.20944/preprints202109.0192.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
neuronopathic mucopolysaccharidosis; Hunter syndrome; mucopolysaccharidosis II; idu-ronate-2-sulfatase; enzyme replacement therapy; neurodegeneration; neurocognitive impairment; pabinafusp afa; blood brain barrier
Online: 10 September 2021 (15:49:10 CEST)
ARTICLE
|
doi:10.20944/preprints202311.0727.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
newborn screening; lysosomal storage disease; Pompe disease; Mucopolysaccharidosis type I; Gaucher disease; Fabry disease; second tier test; tandem mass spectrometry; glycosaminoglycans; lysosphingosine.
Online: 10 November 2023 (16:19:05 CET)
ARTICLE
|
doi:10.20944/preprints202402.1708.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
Mucopolysaccharidosis type II; Disease Modelling; in vitro models; induced Pluripotent Stem Cells (iPSCs); Dental Pulp Stem Cells (DPSCs); SHED: Stem cells from Human Exfoliated Deciduous teeth (SHEDs)
Online: 29 February 2024 (13:03:37 CET)
ARTICLE
|
doi:10.20944/preprints202308.1295.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
Mucopolysaccharidosis; lysosomal storage disorder; newborn screening; enzymatic testing; genetic testing
Online: 18 August 2023 (09:45:16 CEST)
REVIEW
|
doi:10.20944/preprints202209.0115.v1
Subject:
Medicine And Pharmacology,
Pathology And Pathobiology
Keywords:
: N-acetylgalactosamine-4-sulfatase; Arylsulfatase B; chondroitin 4-sulfate; dermatan sulfate; sulfated glycosaminoglycans; mucopolysaccharidosis; cystic fibrosis; malignancy; proteoglycans; Warburg effect
Online: 8 September 2022 (03:07:30 CEST)