Found: 10
Select item for more details and to access through your institution.
Newborn Screening for 6 Lysosomal Storage Disorders in China.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 5, p. e2410754, doi. 10.1001/jamanetworkopen.2024.10754
- By:
- Publication type:
- Article
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.
- Published in:
- Pediatric Dermatology, 2020, v. 37, n. 1, p. 217, doi. 10.1111/pde.13946
- By:
- Publication type:
- Article
Developing therapeutic approaches for metachromatic leukodystrophy.
- Published in:
- Drug Design, Development & Therapy, 2013, v. 7, p. 729, doi. 10.2147/DDDT.S15467
- By:
- Publication type:
- Article
Novel Patient Cell-Based HTS Assay for Identification of Small Molecules for a Lysosomal Storage Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029504
- By:
- Publication type:
- Article
Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.667361
- By:
- Publication type:
- Article
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 317, doi. 10.1002/jimd.12705
- By:
- Publication type:
- Article
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 593, doi. 10.1002/jimd.12491
- By:
- Publication type:
- Article
Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo.
- Published in:
- PLoS Pathogens, 2021, v. 17, n. 5, p. 1, doi. 10.1371/journal.ppat.1009465
- By:
- Publication type:
- Article
Use of Ambroxol as Therapy for Gaucher Disease.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 6, p. e2319364, doi. 10.1001/jamanetworkopen.2023.19364
- By:
- Publication type:
- Article
USP8 inhibition regulates autophagy flux and controls Salmonella infection.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2023, v. 13, p. 1, doi. 10.3389/fcimb.2023.1070271
- By:
- Publication type:
- Article