Results 81 to 90 of about 5,529 (148)
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens +4 more
wiley +1 more source
Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective
Therapeutic Advances in Rare Disease, 2022 This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj +1 more source
GMPPB‐CDG Results in Lysosomal Dysfunction and Acid Alpha‐Glucosidase Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GDP‐mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP‐mannose synthesis, an early step in multiple glycosylation pathways, including N‐glycosylation, O‐mannosylation, C‐mannosylation, and glycosylphosphatidylinositol‐anchor formation.
Carla Damiano +20 more
wiley +1 more source
JIMD Reports, Volume 66, Issue 6, November 2025.ABSTRACT Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase‐2 congenital disorder of glycosylation (PMM2‐CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single‐patient investigational new drug expanded ...
Elizabeth R. Jalazo +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Exploration, Volume 5, Issue 5, October 2025.In this study, Zhang and colleagues show that drinking‐water supplementation of D‐mannose serves as an effective and potential therapeutic of type 2 diabetes, with improvement of both liver health and bone mass. The effect is exerted through suppressing macrophage release of extracellular vesicles based on metabolic control of CD36 expression.
Sha Zhang +21 more
wiley +1 more source
Clinical, demographic and genetic characteristics of PMM2-CDG patients.
, 2016 Clinical, demographic and genetic characteristics of PMM2-CDG patients.
Belén Pérez-Dueñas (2802784) +7 more
core +1 more source
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
G3: Genes, Genomes, Genetics, 2019 Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.
Jessica P. Lao +5 more
doaj +1 more source
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto +2 more
wiley +1 more source
Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley +1 more source