Trusted Resources: Education
Scientific literature and patient education texts
Description of the Molecular and Clinical Characteristics of the Mucopolysaccharidosis Type VII Iberian Cohort
source: Orphanet journal of rare diseases
year: 2021
authors: Gónzalez-Meneses A,Pineda M,Bandeira A,Janeiro P,Ruiz MÁ,Diogo L,Cancho-Candela R
summary/abstract:Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live births. The clinical course and disease progression are widely heterogeneous, but most patients have been reported to show signs such as skeletal deformities or cognitive delay. Additionally, detection criteria are not standardized, resulting in delayed diagnosis and treatment.
organization: Unidad de Dismorfología Y Metabolismo, Hospital Universitario Virgen del Rocío, Avda. Manuel Siurot, s/n, 41013, Seville, Spain. [email protected].DOI: 10.1186/s13023-021-02063-1
read more
BookmarkRelated Content
-
A Fortuitous but Characteristic Blood Smear Observation Allowing a Late Diagnosis of MPS-VIISly disease, described by William Sly in...
-
Understanding Mucopolysaccharidosis Type VII (MPS VII) or Sly SyndromeMPS VII, also called Sly syndrome, is a ...
-
Open-Label Phase 1/2 Study of Vestronidase Alfa for Mucopolysaccharidosis VIIVestronidase alfa is an enzyme replaceme...
-
What Is Sly Syndrome?https://www.youtube.com/watch?v=LwIHvN3G...
-
The First Mucopolysaccharidosis Type VII in a Taiwanese Girl: A Case Report and Review of the LiteratureThe present study included the first cas...
-
Common Diagnostic Journey For MPS VII Patientshttps://www.youtube.com/watch?v=MpxC_7ak...
-
I Want to Live in the Moment While There’s Still TimeMy daughter Abby has Sanfilippo syndrome...
Powered by
