Results 81 to 90 of about 298,625 (226)

Pennies for Your Thoughts: A Case Series of Pancytopenia Due to Zinc-Induced Copper Deficiency in the Same Patient [PDF]

, 2019
A 47-year-old schizophrenic male presented on three separate occasions with pancytopenia and sideroblastic anemia due to copper deficiency from massive zinc penny ingestion.
Aaron, Cynthia K., Bora, Keenan M., Dolcourt, Bram A., Paxton, James H.   +3 more
core  

The Iron-man : A case-report [PDF]

, 2011
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)The most common cause of microcytic anemia is iron deficiency.
Brynjar Viðarsson, Margrét Jóna Einarsdóttir, Sigrún Edda Reykdal   +2 more
core  

Analysis of X chromosome inactivation in autism spectrum disorders. [PDF]

, 2008
International audienceAutism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked ...
Anckarsäter, Henrik, Bacchelli, Elena, Battaglia, Agatino, Betancur, Catalina, Blasi, Francesca, Botros, Hany Goubran, Bourgeron, Thomas, Carone, Simona, Chaste, Pauline, Delorme, Richard, Durand, Christelle M., Fauchereau, Fabien, Gillberg, Christopher, Gillberg, I. Carina, Gong, Xiaohong, Green, Jonathan, Jarvela, Irma, Lamb, Janine, Leboyer, Marion, Maestrini, Elena, Moreno-De-Luca, Daniel, Mouren-Simeoni, Marie Christine, Nummela, Ilona, Nygren, Gudrun, Rastam, Maria, Rossi, Mari, Toma, Claudio   +26 more
core   +4 more sources

Real‐world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next‐generation sequencing anaemia screening programme

British Journal of Haematology, Volume 206, Issue 6, Page 1853-1856, June 2025.
Data from a large cohort of individuals referred for NGS testing evaluate the utility of next‐generation sequencing in clinical practice for diagnosing hereditary haemolytic anaemias.
Jorune Balciuniene, Saliha Yilmaz, Satheesh Chonat, Rachael F. Grace, Gerald A. Soff, Yaddanapudi Ravindranath, Bertil Glader, Paola Bianchi, Bryan McGee, Archana M. Agarwal, Geetha Puthenveetil   +10 more
wiley   +1 more source

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

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

SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism. [PDF]

PLoS ONE, 2011
Mice irradiated and reconstituted with hematopoietic cells lacking manganese superoxide dismutase (SOD2) show a persistent hemolytic anemia similar to human sideroblastic anemia (SA), including characteristic intra-mitochondrial iron deposition.
Florent M Martin, Xiuling Xu, Katharina von Löhneysen, Timothy J Gilmartin, Jeffrey S Friedman   +4 more
doaj   +1 more source

MLASA Syndrome: A Case Report [PDF]

, 2008
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism.
Fallah, R.
core   +2 more sources

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