Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2017

Zielonka Matthias, Garbade Sven F, Kölker Stefan, Hoffmann Georg F, Ries Markus

Abstract excerpt

PURPOSE: The main purpose of the study was to provide quantitative data regarding survival and diagnostic delay. Mucopolysaccharidosis (MPS) type VII (OMIM 253220) is a progressive neurometabolic disorder caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS). Hard clinical end points have not been quantitatedMethods:We quantitatively analyzed published cases with MPS VII (N = 53/88 with sufficient...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age Factors
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Biomarkers

Share to Cross-Sectional Studies

Share to Genetic Testing

Share to Glucuronidase

Share to Prenatal Diagnosis

Share to Symptom Assessment

Source

Identifiers

PMID: 28383542
DOI: 10.1038/gim.2017.10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.PMID 28383542Read ↗

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.Semantic proximity Read ↗

Mucopolysaccharidosis VII in Brazil: Natural History and Clinical FindingsSemantic proximity Read ↗

Clinical course of sly syndrome (mucopolysaccharidosis type VII).Semantic proximity Read ↗

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.Semantic proximity Read ↗

Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-year Clinical Outcome Study of the First Taiwanese CaseSemantic proximity Read ↗

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.Semantic proximity Read ↗

Analysis of Genomic Ancestry and Characterization of a New Variant in MPS Type VIISemantic proximity Read ↗

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.Semantic proximity Read ↗

Mucopolysacccharidoses: from understanding to treatment, a century of discoveriesSemantic proximity Read ↗

Mucopolysaccharidosis Type ISemantic proximity Read ↗

Survey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil Network.Semantic proximity Read ↗

Mucopolysaccharidosis III: Molecular basis and treatment.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.