REVIEW
|
doi:10.20944/preprints202001.0256.v1
Subject:
Biology And Life Sciences,
Anatomy And Physiology
Keywords:
Pompe Disease; Breathing; Respiratory
Online: 22 January 2020 (09:24:53 CET)
ARTICLE
|
doi:10.20944/preprints202007.0611.v1
Subject:
Medicine And Pharmacology,
Obstetrics And Gynaecology
Keywords:
Lysosomal Disorders; Glycogen storage disease Type II; Pompe disease; LOPD; Pregnancy; Enzyme Replacement Therapy
Online: 25 July 2020 (15:48:01 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)