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

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

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

Abstract excerpt

PURPOSE: Quantitative definition of the natural history of free sialic acid storage disease (SASD, OMIM 604369), an orphan disorder due to the deficiency of the proton-driven carrier SLC17A5. METHODS: Analysis of published cases with SASD (N = 116) respecting STROBE criteria. MAIN OUTCOME PARAMETERS: survival and diagnostic delay. Phenotype, phenotype-biomarker associations, and geographical patient distribution...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Biomarkers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cross-Sectional Studies

Share to Delayed Diagnosis

Share to N-Acetylneuraminic Acid

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Survival Analysis

Source

Identifiers

PMID: 29875421
DOI: 10.1038/s41436-018-0051-3

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

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.PMID 29875421Read ↗

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.Semantic proximity Read ↗

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

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

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.Semantic proximity Read ↗

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.Semantic proximity Read ↗

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.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 ↗

Novel form of intermediate salla disease: clinical and neuroimaging features.Semantic proximity Read ↗

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.Semantic proximity Read ↗

Genetic Insights and Clinical Implications of NEU1 Mutations in SialidosisSemantic proximity Read ↗

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.Semantic proximity Read ↗

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.Semantic proximity Read ↗

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