Results 41 to 50 of about 24,745,339 (132)

Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement [PDF]

, 2014
Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients
Matthew Buckland (589995), Lorena Lorenzo (589997), Matthew Buckland, Dempster, J, Duraisingham Sai S., Longhurst Hilary J., Matthew Buckl, Sai S. Duraisingham, Sofia Grigoriadou (589998), Sai S Duraisingham, Hilary J Longhurst, John Dempster, Dempster John, Grigoriadou Sofia, Duraisingham, SS, Lorenzo, L, Buckland Matthew, Grigoriadou, S, Sofia Grigoriadou, Lorenzo Lorena, Sai S. Duraisingham (589994), Buckland, M, Longhurst, HJ, Lorena Lorenzo, John Dempster (589996), Buckland, MS, Hilary J. Longhurst (589999), Hilary J. Longhurst   +27 more
core   +2 more sources

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

Disease Models & Mechanisms, 2019
Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG.
Sangeetha Iyer, Feba S. Sam, Nina DiPrimio, Graeme Preston, Jan Verheijen, Kausalya Murthy, Zachary Parton, Hillary Tsang, Jessica Lao, Eva Morava, Ethan O. Perlstein   +10 more
doaj   +1 more source

Effect of Calcium Deficiency on Growth and Leaf Acid Soluble Proteins of Tomato [PDF]

, 2007
The effects of temporary Ca (Ca) calcium deficiency lasting 2, 3, 4 or 5 d were investigated on tomato plants at the 6-leaf stage, grown hydroponically under controlled conditions.
Silvestre, Jérôme, Pinelli, Eric, Baboulène, Laurence, Morard, Philippe   +3 more
core   +1 more source

Anemia and nutrition deficiency in dental practice [PDF]

, 2016
Орофациалните признаци и симптоми, могат да бъдат първото клинично представяне на различните анемии и да насочат вниманите на денталните лекари за необходимо доизясняване на причините и консултация със съответните специалисти.
Krasteva, Assya Zaharieva; Faculty of Dental Medicine Medical University - Sofia
core   +1 more source

Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management [PDF]

, 2023
Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes.
Yanmei Sang, Congli Chen
core   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Cell Reports
Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz   +13 more
doaj   +1 more source

Additional file 1 of Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

, 2020
Additional file 1: Figure S1. Layout showing the metabolic fate of mannose in mammalian cells. PMM2 is an essential enzyme catalyzing the conversion of mannose-6-phosphate to mannose-1- phosphate, which is the first step in the synthesis. Figure S2.
Taday, Roman, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten   +4 more
openaire   +1 more source

2′‐FL's Depiction of the Human Physiological Function Landscape

Food Science &Nutrition, Volume 14, Issue 8, August 2026.
The figure summarizes the multifaceted physiological effects of 2′‐fucosyllactose (2′‐FL), a major human milk oligosaccharide. The schematic illustrates the central role of the gut‐centered regulatory axis, where 2′‐FL modulates gut microbiota composition, promotes the production of short‐chain fatty acids and microbial metabolites, enhances mucus ...
Yushan Xiao, Jiahao Li, Xiaofeng Li, Yan Dai   +3 more
wiley   +1 more source