Results 51 to 60 of about 1,710 (156)

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Molecular Genetics and Metabolism Reports, 2021
Introduction: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in ...
Patryk Lipiński, Anna Bogdańska, Anna Tylki-Szymańska   +2 more
doaj   +1 more source

Polymorphism in Tetramethylammonium Selenocyanate – Crystal Structures of α‐, β‐, and γ‐[NMe4][SeCN]

Zeitschrift für anorganische und allgemeine Chemie, Volume 652, Issue 5, 18 March 2026.
This study reports the synthesis and crystallographic investigation of tetramethylammonium selenocyanate. The structures of α‐, β‐, and γ‐[NMe4][SeCN] are related to one another and also to the CsCl‐type. In the solid state, tetramethylammonium selenocyanate, [NMe4][SeCN], is polymorphic.
Sven Ringelband, Jonathan Pfeiffer, Hennes Günther, Sergei Ivlev, Frank Tambornino   +4 more
wiley   +1 more source

PARISROC, a photomultiplier array readout chip (PMm2 collaboration) [PDF]

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment, 2010
PARISROC is a complete readout chip, in AMS SiGe 0.35 mu m technology, for photomultipliers array. It is a front-end electronics ASIC which allows trigerless acquisition for the next generation of neutrino experiments. These detectors have place in megaton size water tanks and will require very large surface of photo-detection. An R & D program, funded
G. Martin-Chassard, S. Conforti, F. Dulucq, Mowafak El Berni, C. de La Taille, W. Wei   +5 more
openaire   +1 more source

Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

BMC Medical Genetics, 2019
Background PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid glycans. The mutations of PMM2-CDG
Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He, Huaiyu Gu   +4 more
doaj   +1 more source

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni   +10 more
doaj   +1 more source

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 3, Page 660-671, March 2026.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson, Myra Butrviengpunt, Naomi Tjaden, Alain J. Benitez, Archana S. Kota, Jennifer Webster, Prasanna Kapavarapu, Hayat Mousa, Robert O. Heuckeroth   +8 more
wiley   +1 more source

Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

Journal of Behçet Uz Children's Hospital, 2020
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of genetic diseases that lead to impairment in protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number
Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp   +9 more
doaj   +1 more source

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

Frontiers in Pediatrics, 2021
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark.
Mercedes Serrano, Mercedes Serrano
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

The development of end stage renal disease in two patients with PMM2‐CDG

JIMD Reports, 2022
We report two patients with PMM2‐CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2‐CDG and have rarely been reported as the cause of death.
Henna Tiwary, Leah E. Hecht, William J. Brucker, Gerard T. Berry, Nancy M. Rodig   +4 more
doaj   +1 more source