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 family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.

European journal of medical genetics - 1 Apr 2019

Abiramalatha Thangaraj, Arunachal Gautham, Muthusamy Karthik, Thomas Niranjan

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inborn errors of metabolism with around 100 types described so far. Because of the limited number of reported cases in each type except PMM2-CDG, the complete clinical picture of other types is not known. RFT1-CDG is a rare type, with ten cases reported in the literature. Our patient presented as a floppy neonate with severe respiratory...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Disorders of Glycosylation
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Infant, Newborn

Share to Membrane Glycoproteins

Share to Mutation, Missense

Share to Pedigree

Share to Respiratory Distress Syndrome, Newborn

Source

Identifiers

PMID: 30071302
DOI: 10.1016/j.ejmg.2018.07.023

Genes

RFT1
PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.PMID 30071302Read ↗

Severe Ciliopathy-Like Phenotype in an Infant With a Novel MPDU1 Missense Variant.Semantic proximity Read ↗

Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).Semantic proximity Read ↗

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDGSemantic proximity Read ↗

Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in ArabsSemantic proximity Read ↗

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.Semantic proximity Read ↗

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

Expanding the phenotype of ATP6AP1 deficiency.Semantic proximity Read ↗

Perinatal and early infantile symptoms in congenital disorders of glycosylation.Semantic proximity Read ↗

Congenital disorders of glycosylation with neonatal presentation.Semantic proximity Read ↗

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.Semantic proximity Read ↗

Causes of mortality in the congenital disorders of glycosylation.Semantic proximity Read ↗

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

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