Results 41 to 50 of about 14,166 (226)

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

TRNT1 deficiency: clinical, biochemical and molecular genetic features [PDF]

, 2016
BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).
Chong, WK, Clayton, PT, Fassone, E, Footitt, E, Kleta, R, Mills, PB, Minczuk, M, Niazi, R, Pearce, S, Plagnol, V, Powell, CA, Rahman, S, Saldanha, JW, Taanman, JW, Wedatilake, Y   +14 more
core   +2 more sources

Iron Physiology and Its Impact on Atopic Diseases: An EAACI Taskforce Report

Allergy, EarlyView.
ABSTRACT Iron is essential for oxygen transport, energy metabolism, and immune regulation. Yet iron deficiency is the most common micronutrient disorder across all age groups, affecting nearly one quarter of the global population. Iron deficiency triggers nutritional immunity, a host defense mechanism that withholds and redistributes iron, contributing
Franziska Roth‐Walter, Ioana Agache, Beatriz Cabanillas, Roberto Berni Canani, Pasquale Comberiati, Holger Garn, Cristina Gomez‐Casado, Karin Hufnagl, Ekaterina Khaleva, Gregorio P. Milani, Daniel Munblit, Nikolaos Douladiris, Liam O'Mahony, Frank Redegeld, Carmen Riggioni, Peter K. Smith, Betty van Esch, Emilia Vassilopoulou, Carina Venter, Diego G. Peroni   +19 more
wiley   +1 more source

Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac hemochromatosis in congenital hypotransferrinemia

Pediatric Hematology Oncology Journal
Background: Hypotransferrinemia is a rare cause of anemia presenting in early childhood. The clinical scenario may mimic iron deficiency anemia at onset with no response to multiple courses of hematinics.
Shrikiran Aroor, Suneel C. Mundkur, Sandeep Kumar, Koushik Handattu, Praveen C. Samuel   +4 more
doaj   +1 more source

Hemogram Abnormalities in Apparently Healthy First-time Blood Donors in Libreville, Gabon

Sudan Journal of Medical Sciences, 2019
Background: The objective of this study was to determine complete blood count (CBC) abnormalities in Libreville blood donors to advocate for hemoglobin pre-donation implementation and to take into account CBC results in blood donation qualification ...
Cyrille Bisseye
doaj   +1 more source

Novel mutation in addition to functional TMPRSS6 gene polymorphisms originate an IRIDA-like phenotype in an African child [PDF]

, 2019
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. The disease originates from mutations in TMPRSS6 gene, encoding Matriptase 2,
Batalha, Sara, Faleiro, Bárbara D., Faustino, Paula, Lavinha, João, Machado, Miguel P., Maia, Raquel, Mendonça, Joana, Vieira, Luís   +7 more
core  

Assessing the Association between Serum Ferritin, Transferrin Saturation, and C-Reactive Protein in Northern Territory Indigenous Australian Patients with High Serum Ferritin on Maintenance Haemodialysis [PDF]

, 2017
Copyright © 2017 SandawanaWilliam Majoni et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is ...
Barzi, F, Cass, A, Hughes, J T, Lawton, P D, Majoni, Sandawana William   +4 more
core   +3 more sources

In‐depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis

British Journal of Haematology, EarlyView.
Summary Hereditary spherocytosis (HS) is a hereditary haemolytic anaemia, caused by pathogenic variants in genes encoding red blood cell membrane proteins. Osmotic gradient ektacytometry evaluates red cell deformability and hydration and is increasingly used in the diagnosis of HS.
Jonathan R. A. de Wilde, Geoffrey Z. L. Kuppens, Maryse E. Boesveld, Annelies J. van Vuren, Wouter W. van Solinge, Esmé Waanders, Eduard J. van Beers, Minke A. E. Rab, Marije Bartels, Richard van Wijk   +9 more
wiley   +1 more source

Índice de anisocitose eritrocitária (RDW): diferenciação das anemias microcíticas e hipocrômicas Red blood cell distribution width (RDW): differentiation of microcytic and hypochromic anemias

Revista Brasileira de Hematologia e Hemoterapia, 2008
A anemia ferropriva, talassemia menor e anemia de doença crônica são as anemias microcíticas e hipocrômicas mais comuns em nosso meio. O diagnóstico diferencial das referidas anemias é de grande importância clínica; contudo, muitas vezes é complexo em ...
Januária F. Matos, Luci M. S. Dusse, Rachel V. B. Stubbert, Geralda F. G. Lages, Maria das Graças Carvalho   +4 more
doaj   +1 more source