Results 71 to 80 of about 3,013 (227)

Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Glycogen storage disease 1b (GSD1b) typically presents in early infancy with poor fasting tolerance, hepatomegaly, and neutropenia. We report two siblings who were diagnosed with GSD1b in adulthood. Both had a normal fasting tolerance throughout childhood and, as adults, were able to fast for at least 16 h without developing hypoglycaemia. The
Gregory Lynch, Alison Woodall, Charlotte Dawson, Philip Newsome, Maria Veiga‐da‐Cunha, Karolina M. Stepien   +5 more
wiley   +1 more source

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker

Frontiers in Genetics
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α1,3 ...
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa   +10 more
doaj   +1 more source

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

Molecular Genetics and Metabolism Reports, 2014
Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the assembly of dolichol-oligosaccharides used for protein N-glycosylation.
Chaya Murali, James T. Lu, Mahim Jain, David S. Liu, Ralph Lachman, Richard A. Gibbs, Brendan H. Lee, Daniel Cohn, Philippe M. Campeau   +8 more
doaj   +1 more source

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

JIMD Reports, 2020
Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG; formerly named CDG type 1b) is characterized by the clinical triad of hepatopathy, protein‐losing enteropathy, and hyperinsulinemic hypoglycemia in combination with ...
Chris Mühlhausen, Lisa Henneke, Lars Schlotawa, Daniel Behme, Marianne Grüneberg, Jutta Gärtner, Thorsten Marquardt   +6 more
doaj   +1 more source

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Scientific Reports, 2022
We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata   +15 more
doaj   +1 more source

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

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
We report a novel homozygous pathogenic PGAP3 variant (c.202dupT; p.Cys68fs*2) in a child with hyperphosphatasia and severe neurodevelopmental impairment. Elevated alkaline phosphatase guided diagnosis, expanding the genotypic and phenotypic spectrum of PGAP3‐related HPMRS.
Arash Salmaninejad, Mohammad Reza Seyedtaghia, Ali Hosseini Bereshneh, Nasrin Azizi, Reza Bayat, Somaye Esnaashari, Vahid Aminzadeh, Shahin Koohmanaee, Shahram Savad, Majid Mojarrad, Setila Dalili   +10 more
wiley   +1 more source

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

Frontiers in Pediatrics, 2021
Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them.
Patryk Lipiński, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska   +3 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Evolutionary divergence and functional insights into the heteromeric cis‐prenyltransferase of Paramecium tetraurelia

The FEBS Journal, Volume 293, Issue 6, Page 1681-1707, March 2026.
Heteromeric cis‐prenyltransferases (CPT) are indispensable for dolichol synthesis and protein N‐glycosylation in most eukaryotes. The catalytic subunits are strongly conserved throughout evolution, in contrast to the evolutionarily variable accessory subunits. The POC1 protein from Paramecium tetraurelia is the smallest identified CPT‐accessory subunit
Agnieszka Onysk, Kamil Steczkiewicz, Mariusz Radkiewicz, Paweł Link‐Lenczowski, Przemysław Surowiecki, Karolina Sztompka, Kariona A. Grabińska, Jacek K. Nowak, Liliana Surmacz   +8 more
wiley   +1 more source

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.

PLoS Genetics
DPAGT1-CDG is a Congenital Disorder of Glycosylation (CDG) that lacks effective therapies. It is caused by mutations in the gene DPAGT1 which encodes the first enzyme in N-linked glycosylation.
Hans M Dalton, Naomi J Young, Alexys R Berman, Heather D Evans, Sydney J Peterson, Kaylee A Patterson, Clement Y Chow   +6 more
doaj   +1 more source