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

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

21 Oct 2021

Abstract excerpt

BACKGROUND AND OBJECTIVES: 1-related glycosylphosphatidylinositol (GPI) deficiency. METHODS: variants were identified. Clinical, biochemical, and neuroimaging data were collected for comparison. Where possible, GPI-anchored proteins were assessed using flow cytometry. RESULTS: Ten novel variants were identified in 7 patients. Flow cytometry samples of 3 available patients confirmed deficiency of several...

Read the complete abstract on PubMed

Topics

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

Share to Lysosomal Storage Disorders Research
Share to Neurogenetic and Muscular Disorders Research
Share to Trypanosoma species research and implications

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34703884
DOI: 10.1212/nxg.0000000000000631

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1PMID 34703884Read ↗

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Semantic proximity Read ↗

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.Semantic proximity Read ↗

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.Semantic proximity Read ↗

Expanding the Genotypic and Phenotypic Spectrum of PGAP1 Deficiency: Clinical and Functional Insights from 15 PatientsSemantic proximity Read ↗

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.Semantic proximity Read ↗

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.Semantic proximity Read ↗

[Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy].Semantic proximity Read ↗

PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.Semantic proximity Read ↗

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Semantic proximity Read ↗

Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.Semantic proximity Read ↗

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.Semantic proximity Read ↗

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