Results 101 to 110 of about 324,192 (243)

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene

Movement Disorders, Volume 40, Issue 4, Page 672-682, April 2025.
Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson   +10 more
wiley   +1 more source

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP [PDF]

, 2016
Background: Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but with ...
Biao Li, Deborah A. Nickerson, Izoduwa Abbe, Jay Shendure, Joshua D. Smith, Khadim Shah, Kwanghyuk Lee, Michael J. Bamshad, Muhammad Ansar, Muhammad Salman Chishti, null null, Paul J. Coucke, Raja Hussain Ali, Regie Lyn P. Santos-Cortez, Suzanne M. Leal, Wasim Ahmad, Wouter Steyaert   +16 more
core   +2 more sources

Prospective Study to Assess Long‐Term Outcomes of Chelator‐Based Treatment With Trientine Dihydrochloride in Patients With Wilson Disease

JGH Open, Volume 9, Issue 3, March 2025.
ABSTRACT Background and Aims Wilson disease is an inherited disorder of copper metabolism affecting mainly the liver and brain. Trientine dihydrochloride (TETA‐2HCl) is approved for the treatment of Wilson disease in patients (≥ 5 years) intolerant to D‐penicillamine therapy.
Isabelle Mohr, Carlot Kruse, Verena Aliane, Karl Heinz Weiss   +3 more
wiley   +1 more source

Ring sideroblasts and sideroblastic anemias

Haematologica, 2011
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ring sideroblasts in the bone marrow ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
openaire   +3 more sources

Significance of Continuous Medical Education of General Practitioners about Common Diseases – Iron Deficiency Anemia [PDF]

, 2009
Three years long, prospective study was performed in order to evaluate a possible influence of continuing medical education of general practitioners on managing the patients with common diseases such as iron deficiency anemia (IDA).
Antica Duletić-Načinović, Badema Jelovčić-Barbić, Biserka Trošelj-Vukić, Duška Petranović, Tanja Batinac   +4 more
core   +3 more sources

Recognition, investigation and management of mitochondrial disease [PDF]

, 2017
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are ...
Davison, JE, Rahman, S
core   +1 more source

Tandem combination of ASCT and CAR T‐cell therapy in highly refractory CNS lymphomas

British Journal of Haematology, Volume 207, Issue 5, Page 2178-2182, November 2025.
Lydia Montes, Sylvain Choquet, Madalina Uzunov, Véronique Morel, Marine Baron, Damien Roos‐Weil, Magalie Joris, Caroline Delette, Delphine Lebon, Nabih Azar, Carole Metz, Lucia Nichelli, Magali Le Garff‐Tavernier, Clémentine Boccon‐Gibod, Claire Lacan, Laetitia Souchet, Khê Hoang‐Xuan, Carole Soussain, Inès Boussen, Caroline Houillier   +19 more
wiley   +1 more source

Application of Nanomaterials in the Repair and Regeneration of Lymphatic Organs and Corresponding Biophysical Simulation Strategies

Advanced NanoBiomed Research, Volume 5, Issue 2, February 2025.
Immune system diseases, tumors, and injuries can damage lymphoid organs and impair immune function. Treatments like chemotherapy and radiotherapy exacerbate these issues, leading to dysfunction and increased infection risk. Nanotechnology plays a crucial role in regenerating lymphoid organs and restoring immune function through targeted drug delivery ...
Bangheng Liu, Dong‐An Wang
wiley   +1 more source

Ferritin and Iron Studies in Anaemia and Chronic Disease [PDF]

, 2017
Anaemia is a condition in which the number of red cells necessary to meet the body's physiological requirements is insufficient. Iron deficiency anaemia (IDA) and the anaemia of chronic disease (ACD) are the two most common causes of anaemia worldwide ...
Cartwright GE, Gibson R, Illing AC, James Uprichard, Ying Y Peng   +4 more
core   +1 more source

Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman [PDF]

, 2010
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia.
Bento, C, Crisóstomo, AI, Manco, L, Pereira, J, Rebelo, U, Relvas, L, Ribeiro, ML   +6 more
core