Cargando…
Biochemical diagnosis of Sanfilippo disorder types A and B
BACKGROUND: One of the 11 recognized mucopolysaccharidosis (MPS) diseases is Sanfilippo. It is autosomal recessive in its mode of transmission. There are four subtypes of Sanfilippo (A, B, C, and D). The most worldwide prevalent subtypes of mucopolysaccharidosis type III (MPS III) are A and B follow...
Autores principales: | Nosier, Soha S., El Nakeeb, Seham M. S., Ibrahim, Mona M., El-Gammal, Mona, Fateen, Ekram M. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10638229/ https://www.ncbi.nlm.nih.gov/pubmed/37947910 http://dx.doi.org/10.1186/s43141-023-00586-7 |
Ejemplares similares
-
Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt
por: Fateen, Ekram, et al.
Publicado: (2021) -
Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience
por: Fateen, Ekram, et al.
Publicado: (2019) -
Mortality in patients with Sanfilippo syndrome
por: Lavery, Christine, et al.
Publicado: (2017) -
N-Substituted l-Iminosugars
for the Treatment of Sanfilippo Type B Syndrome
por: De Pasquale, Valeria, et al.
Publicado: (2023) -
Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice
por: Ashby, Frederick James, et al.
Publicado: (2023)