Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome) Latest Advances

Journal: Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia

Published: June 28, 2024

Atypical Neuroimaging Findings in a Patient With Mucopolysaccharidosis Type VII (Sly Syndrome).

Journal: Cureus

Published: June 09, 2024

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

Journal: Orphanet journal of rare diseases

Published: December 17, 2023

Primary extraperitoneal hydatid cyst, a rare differential diagnosis of subdiaphragmatic mass: A case report.

Journal: Clinical case reports

Published: November 29, 2023

A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.

Journal: Molecular genetics and metabolism reports

Published: October 17, 2023

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.

Journal: European journal of medical genetics

Published: October 09, 2023

Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome) Latest Advances

Find the Latest Research About Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome)

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning.

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning.

CRISPR/Cas9-mediated promoterless gene targeting reduces lysosome storage in MPS VII mice.

CRISPR/Cas9-mediated promoterless gene targeting reduces lysosome storage in MPS VII mice.

Alder-Reilly Leukocyte Inclusions in a patient with Mucopolysaccharidosis Type VII.

Alder-Reilly Leukocyte Inclusions in a patient with Mucopolysaccharidosis Type VII.

Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case.

Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case.

Unravelling a mechanistic link between mitophagy defect, mitochondrial malfunction, and apoptotic neurodegeneration in Mucopolysaccharidosis VII.

Unravelling a mechanistic link between mitophagy defect, mitochondrial malfunction, and apoptotic neurodegeneration in Mucopolysaccharidosis VII.

Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene.

Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene.

Atypical Neuroimaging Findings in a Patient With Mucopolysaccharidosis Type VII (Sly Syndrome).

Atypical Neuroimaging Findings in a Patient With Mucopolysaccharidosis Type VII (Sly Syndrome).

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

Primary extraperitoneal hydatid cyst, a rare differential diagnosis of subdiaphragmatic mass: A case report.

Primary extraperitoneal hydatid cyst, a rare differential diagnosis of subdiaphragmatic mass: A case report.

A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.

A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.