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

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.

BMC medical genetics - 19 Feb 2020

Honjo Rachel Sayuri, Vaca Evelyn Cristina Nuñez, Leal Gabriela Nunes, Abellan Deipara Monteiro, Ikari Nana Miura, Jatene Marcelo Biscegli, Martins Ana Maria, Kim Chong Ae

Abstract excerpt

BACKGROUND: The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the...

Read the complete abstract on PubMed

Topics

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

Share to Ascites
Share to Brazil

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease Progression

Share to Heart Failure

Share to Infant

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 32075597
DOI: 10.1186/s12881-020-0972-y
PMCID: PMC7031867

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.PMID 32075597Read ↗

Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.Semantic proximity Read ↗

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.Semantic proximity Read ↗

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.Semantic proximity Read ↗

PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.Semantic proximity Read ↗

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs.Semantic proximity Read ↗

Hydrops Fetalis Caused by α-Thalassemia: An Emerging Health Care ProblemSemantic proximity Read ↗

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.Semantic proximity Read ↗

Acute Airway Crisis in Mucopolysaccharidosis VI: Management ChallengesSemantic proximity Read ↗

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.Semantic proximity Read ↗

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.Semantic proximity Read ↗

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient.Semantic proximity Read ↗

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.Semantic proximity Read ↗

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