Results 81 to 90 of about 3,871 (190)

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

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +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

Measurement of 1.7 to 74 MeV polarised gamma rays with the HARPO TPC

, 2016
Current {\gamma}-ray telescopes based on photon conversions to electron-positron pairs, such as Fermi, use tungsten converters. They suffer of limited angular resolution at low energies, and their sensitivity drops below 1 GeV.
Amano, S., Attié, D., Bernard, D., Bruel, P., Calvet, D., Colas, P., Daté, S., Delbart, A., Frotin, M., Geerebaert, Y., Giebels, B., Gros, Ph., Götz, D., Hashimoto, S., Horan, D., Kotaka, T., Louzir, M., Minamiyama, Y., Miyamoto, S., Ohkuma, H., Poilleux, P., Semeniouk, I., Sizun, P., Takemoto, A., Wang, S., Yamaguchi, M.   +25 more
core   +3 more sources

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

HARPO: a TPC as a gamma-ray telescope and polarimeter

, 2014
A gas Time Projection Chamber can be used for gamma-ray astronomy with excellent angular-precision and sensitivity to faint sources, and for polarimetry, through the measurement of photon conversion to $e^+e^-$ pairs.
Anvar, Shebli, Attié, David, Bernard, Denis, Bruel, Philippe, Colas, Paul, Delbart, Alain, Frotin, Mickael, Geerebaert, Yannick, Giebels, Berrie, Gros, Philippe, Götz, Diego, Horan, Deirdre, Louzir, Marc, Poilleux, Patrick, Semeniouk, Igor, Sizun, Patrick, Wang, Shaobo   +16 more
core   +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

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

Genes, 2023
Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation. This disruption in glycosylation can induce endoplasmic reticulum stress, contributing to the disease pathology.
Anna N. Ligezka, Rohit Budhraja, Yurika Nishiyama, Fabienne C. Fiesel, Graeme Preston, Andrew Edmondson, Wasantha Ranatunga, Johan L. K. Van Hove, Jens O. Watzlawik, Wolfdieter Springer, Akhilesh Pandey, Eva Morava, Tamas Kozicz   +12 more
openaire   +2 more sources