Results 21 to 30 of about 3,704 (134)

The challenges of classical galactosemia: HRQoL in pediatric and adult patients

Orphanet Journal of Rare Diseases, 2023
Background Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment.
Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch   +6 more
doaj   +1 more source

B Cell-Deficient (μMT) Mice Have Alterations in the Cytokine Microenvironment of the Gut-Associated Lymphoid Tissue (GALT) and a Defect in the Low Dose Mechanism of Oral Tolerance [PDF]

The Journal of Immunology, 2001
Abstract Peripheral immune tolerance following i.v. administration of Ag has been shown to occur in the absence of B cells. Because different mechanisms have been identified for i.v. vs low dose oral tolerance and B cells are a predominant component of the gut-associated lymphoid tissue (GALT) they may play a role in tolerance ...
P A, Gonnella, H P, Waldner, H L, Weiner
openaire   +2 more sources

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure

Medicina, 2019
Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism.
Alina Grama, Ligia Blaga, Alina Nicolescu, Călin Deleanu, Mariela Militaru, Simona Sorana Căinap, Irina Pop, Georgia Tita, Claudia Sîrbe, Otilia Fufezan, Mihaela Adela Vințan, Romana Vulturar, Tudor Lucian Pop   +12 more
doaj   +1 more source

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt

Journal of Advanced Research, 2018
Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program.
Magd A. Kotb, Lobna Mansour, Christine William Shaker Basanti, Wael El Garf, Ghada I.Z. Ali, Sally T. Mostafa El Sorogy, Inas E.M. Kamel, Naglaa M Kamal   +7 more
doaj   +1 more source

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes

Molecular Genetics and Metabolism, 2020
The high variability in clinical outcome of patients with Classical Galactosemia (CG) is poorly understood and underlines the importance of prognostic biomarkers, which are currently lacking. The aim of this study was to investigate if residual galactose metabolism capacity is associated with clinical and biochemical outcomes in CG patients with ...
Welsink-Karssies, M. M., van Weeghel, M., Hollak, C. E. M., Elfrink, H. L., Janssen, M. C. H., Lai, K., Langendonk, J. G., Oussoren, E., Ruiter, J. P. N., Treacy, E. P., de Vries, M., Ferdinandusse, S., Bosch, A. M.   +12 more
openaire   +5 more sources

Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2017
Classic Galactosemia is an autosomal recessive disorder caused by deleterious mutations in the GALT gene, which encodes galactose-1 phosphate uridylyltransferase enzyme (GALT: EC 2.7.7.12). Recent studies of primary skin fibroblasts isolated from the GalT-deficient mice demonstrated a slower growth rate, a higher level of endoplasmic reticulum (ER ...
Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, United States ( host institution ), Balakrishnan, B. ( author ), Nicholas, C. ( author ), Siddiqi, A. ( UF author ), Chen, W. ( author ), Bales, E. ( author ), Feng, M. ( author ), Johnson, J. ( author ), Lai, K. ( author )   +8 more
openaire   +3 more sources

Analysis of common mutation for GALT gene in newborns with galacatosemia Nineveh governorate

مجلة مركز بحوث التقنيات الاحيائية, 2014
Iraq contains many diseases that have never been counted or examined, including diseases related to food, which has deteriorated in recent years, and has rapid and direct impact especially on the children category, one of these diseases is galactosemia.
Owayes M Alhassani, Akeel H. Alassie, Saad G. Saleh   +2 more
doaj   +1 more source

Contribution of Mesenteric Lymph Nodes and GALT to the Intestinal Foxp3+ Regulatory T-Cell CompartmentSummary

Cellular and Molecular Gastroenterology and Hepatology, 2016
Background & Aims: Foxp3+ regulatory T cells (Tregs) in the intestine promote immune tolerance to enteric antigens. Previous studies have shown that C-C chemokine receptor 7 (CCR7)-dependent migration of intestinal dendritic cells to the mesenteric lymph
Duke Geem, Vu Ngo, Akihito Harusato, Benoit Chassaing, Andrew T. Gewirtz, Rodney D. Newberry, Timothy L. Denning   +6 more
doaj   +1 more source

Immunomodulatory meaning of diet and COVID-19

Medycyna Ogólna i Nauki o Zdrowiu, 2022
Introduction and objective The latest scientific reports showed that there is a relationship between the state of the gastrointestinal tract and the immune system, and the incidence of COVID-19.
Dominika Grońska, Monika Kłujsza, Aleksandra Pelczar, Jolanta Kaszuba-Zwoińska   +3 more
doaj   +1 more source

The natural history of classic galactosemia: lessons from the GalNet registry

Orphanet Journal of Rare Diseases, 2019
Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT).
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry   +42 more
doaj   +1 more source