Results 71 to 80 of about 6,166 (240)

Risk of hypertensive disorders in pregnancies with non‐immune hydrops fetalis and single fetal effusions

Pregnancy, Volume 1, Issue 4, July 2025.
Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani, Diana C. Robles, Juan M. Gonzalez, Mary E. Norton, Teresa N. Sparks   +4 more
wiley   +1 more source

Congenital sideroblastic anemia: A report of two cases

Indian Journal of Pathology and Microbiology, 2009
Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked,
Gupta Sanjeev, Rao Seema, Kar Rakhee, Tyagi Seema, Pati Hara   +4 more
doaj  

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  

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

X‐Linked Sideroblastic Anaemia Caused by Intronic ALAS2 Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report

eJHaem, Volume 6, Issue 3, June 2025.
ABSTRACT X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother ...
James O'Connor, Niall Mannion, Caoimhe McKenna, Kerrie Sweeney, Aaron Niblock   +4 more
wiley   +1 more source

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  

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

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