Congenital Disorders Of Glycosylation (cdg) - Histology

Relevant Publications

Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).

Issue Release: 2024

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Issue Release: 2024

SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.

Issue Release: 2024

Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia.

Issue Release: 2024

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Issue Release: 2024

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

Issue Release: 2024

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.

Issue Release: 2024

Glycosphingolipids in congenital disorders of glycosylation (CDG).

Issue Release: 2024

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.

Issue Release: 2024

Aberrant N-glycosylation is a therapeutic target in carriers of a common and highly pleiotropic mutation in the manganese transporter ZIP8.

Issue Release: 2024

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Issue Release: 2024

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

Issue Release: 2024

Treatment of congenital disorders of glycosylation: An overview.

Issue Release: 2024

Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition.

Issue Release: 2024

In vivo Mapping of the Mouse Galnt3-specific O-Glycoproteome.

Issue Release: 2024

A novel variant associated with congenital disorder of glycosylation: a case report and related analysis.

Issue Release: 2024

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

Issue Release: 2024

Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys.

Issue Release: 2024

Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Issue Release: 2024

(Key1-001) congenital disorders of glycosylation: Glycobiology at the bedside.

Issue Release: 2024

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