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

Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland.

Acta paediatrica Japonica : Overseas edition - 1 Oct 1996

Tylki-Szymanska A, Lugowska A, Czartoryska B

Abstract excerpt

A defect of lysosomal neuraminidase (sialidase N-acetyl-neuramine acid hydrolase EC 3.2.1.18) leads to a wide spectrum of phenotypes, the most severe of which is nephrosialidosis. A 4-year-old boy of related parents, born at term with hydrops fetalis, is reported. Hydrocephalus was detected at 2 months of age. The child's course over 3 years was characterized by slow growth and psychomotor development. He had...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Consanguinity
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Neuraminidase

Share to Oligosaccharides

Share to Phenotype

Share to Poland

Source

Identifiers

PMID: 8942016
DOI: 10.1111/j.1442-200x.1996.tb03539.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland.PMID 8942016Read ↗

Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.Semantic proximity Read ↗

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.Semantic proximity Read ↗

Molecular pathology of NEU1 gene in sialidosis.Semantic proximity Read ↗

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.Semantic proximity Read ↗

First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.Semantic proximity Read ↗

Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots.Semantic proximity Read ↗

Systemic lupus erythematosus occurring in a patient with Niemann-Pick type B disease.Semantic proximity Read ↗

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.Semantic proximity Read ↗

Prenatal diagnosis of Niemann–Pick diseases types A, B and CSemantic proximity Read ↗

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.Semantic proximity Read ↗

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) geneSemantic proximity Read ↗

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis.Semantic proximity Read ↗

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