Cargando…
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome
Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders (LSD) characterized by the excessive accumulation of glycosaminoglycans (GAG). Conventional MPS, caused by inborn deficiencies of lysosomal enzymes involved in GAG degradation, display various multisystemic symptoms—including progressi...
Autores principales: | Sofronova, Viktoriia, Iwata, Rina, Moriya, Takuya, Loskutova, Kiunniai, Gurinova, Elizaveta, Chernova, Mairanush, Timofeeva, Anastasia, Shvedova, Anna, Vasilev, Filipp, Novgorodova, Saina, Terawaki, Seigo, Moriwaki, Takahito, Sukhomyasova, Aitalina, Maksimova, Nadezhda, Otomo, Takanobu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145135/ https://www.ncbi.nlm.nih.gov/pubmed/35628659 http://dx.doi.org/10.3390/ijms23105851 |
Ejemplares similares
-
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)
por: Sofronova, Viktoriia, et al.
Publicado: (2023) -
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines
por: Sofronova, Viktoriia, et al.
Publicado: (2023) -
Mucopolysaccharidosis-Plus Syndrome
por: Vasilev, Filipp, et al.
Publicado: (2020) -
HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis
por: Terawaki, Seigo, et al.
Publicado: (2023) -
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
por: Sofronova, Viktoriia, et al.
Publicado: (2022)