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

Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.

Endocrine, metabolic & immune disorders drug targets - 1 Jan 2021

Madani Sedigheh, Sayarifard Fatemeh, Tajdini Parisa, Mohsenipour Reihaneh, Khoram Khorshid Hamid Reza, Rezaei Nima

Abstract excerpt

BACKGROUND: In Congenital Disorder of Glycosylation (CDG) type Ia, homozygous mutations of the PMM2 gene cause phosphomannomutase 2 dysfunction. CASE PRESENTATION: Herein, a 10-month-old girl, is presented with severe hypotonia, along with inappropriately normal mental status and normal facies. High 2-ketoglutaric acid was detected in her urine, therefore, the diagnosis of 2-Ketoglutarate dehydrogenase complex...

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 Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Homozygote

Share to Infant

Share to Mutation

Share to Phosphotransferases (Phosphomutases)

Source

Identifiers

PMID: 33858316
DOI: 10.2174/1871530321666210415105917

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

Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.PMID 33858316Read ↗

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.Semantic proximity Read ↗

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Semantic proximity Read ↗

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.Semantic proximity Read ↗

Congenital disorders of glycosylation: Still "hot" in 2020.Semantic proximity Read ↗

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in SpainSemantic proximity Read ↗

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).Semantic proximity Read ↗

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axesSemantic proximity Read ↗

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.Semantic proximity Read ↗

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.Semantic proximity Read ↗

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].Semantic proximity Read ↗

Congenital disorders of glycosylation: narration of a story through its patentsSemantic proximity Read ↗

Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.Semantic proximity Read ↗

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