RFT1-CDG Latest Advances

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Journal: bioRxiv : the preprint server for biology

Published: April 15, 2024

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Journal: The Journal of biological chemistry

Published: April 04, 2024

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

Journal: Molecular genetics & genomic medicine

Published: November 15, 2021

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Journal: The Journal of pediatrics

Published: August 04, 2020

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Journal: Clinical genetics

Published: November 23, 2018

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

Journal: JIMD reports

Published: December 01, 2017

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

Journal: European journal of medical genetics

Published: November 09, 2017

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Journal: Annals of human genetics

Published: March 20, 2017

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

Journal: The Journal of pediatrics

Published: July 08, 2016

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Journal: Developmental medicine and child neurology

Published: March 22, 2016

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: February 20, 2016

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).

Journal: Biochimie

Published: November 29, 2010

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Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

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

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

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

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

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

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).