Results 51 to 60 of about 511,787 (144)

Hepcidin and Anemia: A Tight Relationship

Frontiers in Physiology, 2019
Hepcidin, the master regulator of systemic iron homeostasis, tightly influences erythrocyte production. High hepcidin levels block intestinal iron absorption and macrophage iron recycling, causing iron restricted erythropoiesis and anemia.
Alessia Pagani, Antonella Nai, Antonella Nai, Laura Silvestri, Laura Silvestri, Clara Camaschella   +5 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

SIDEROBLASTIC ANEMIA DIAGNOSIS AND MANAGEMENT

, 2018
Introduction: Sideroblastic anemia (SA), when defined 5 decades ago, was already recognized to occur in heterogeneous settings, including as familial or acquired disease.
Riyad Mohammed AlHajji , Nof Saadi Algarni , Jumanah Mohammad Bondagji , Hanan Bakhait Alghamdi , Salma Mosa Kamli , Asma Saad Al Ahmari , Ahmed Jameel Alyamani , Waleed Ali Althobaiti , Fatmah Mohsen Alhejji , Eidah Mohammed AL Ahmari , Abdullah Mohammed Alrajeh
core   +1 more source

827 CONGENITAL SIDEROBLASTIC ANEMIA (CSA): A MICRO-ENVIRONMENT DEFECT [PDF]

Pediatric Research, 1981
Erythroid colony (EC) formation and heme biosynthesis were studied in marrow cultures of a 2 year old girl with severe CSA and neutropenia. Bone marrow showed micronormoblastic erythroid hyperplasia, ringed sideroblasts and decreased granulopoeisis. The patient had not responded to hematinics. and prednisone. EC formation was determined in plasma clot (
Joseph Kochen, Nader Ibrahim, John Lutton, Richard Levere   +3 more
openaire   +1 more source

Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia [PDF]

Blood, 1980
Heme biosynthesis was examined in erythroid tissue of a 4-yr-old girl with severe sideroblastic anemia since infancy, as documented by the presence of intramitochondrial deposits of iron in erythroblasts. Free red cell protoporphyrin, urinary porphyrins, and activities of erythrocyte porphobilinogen synthase, uroporphyrinogen 1 synthase, aspartate ...
G R, Buchanan, S S, Bottomley, R, Nitschke   +2 more
openaire   +3 more sources

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population

Haemophilia, Volume 32, Issue 3, Page 646-657, May/June 2026.
ABSTRACT Introduction The National Bleeding Disorder Foundation (NBDF) Medical and Scientific Advisory Council (MASAC) was formed in 1954 and issues recommendations and advisories pertinent to the bleeding disorders community. MASAC is comprised of > 25 rotating members from different medical disciplines and lived experience experts.
Glaivy Batsuli, Magdalena D. Lewandowska, Ming Y. Lim, Kelly Tickle, Maureen K. Baldwin, Rose Bender, Jennifer Davila, Brendan Hayes, Amanda Jacobson‐Kelly, Peter Kouides, Michele P. Lambert, Shilpa Nataraj, Michelle Sholzberg, Roona Sinha, Hanny Al‐Samkari, Amy L. Dunn   +15 more
wiley   +1 more source

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia [PDF]

The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance.
Harris, Neil, Neil Harris, Tung Wynn, Reema Kashif, Ogunbileje, John O., Kashif, Reema, Stover, Brian, Bremansu Osa-Andrews, Wynn, Tung, Osa-Andrews, Bremansu, Brian Stover, John O. Ogunbileje   +11 more
core   +1 more source

Severe isoniazid related sideroblastic anemia [PDF]

, 2011
Isoniazid induced sideroblastic anemia is a rare event. We report case of a 45 year old Caucasian women with development of severe anaemia 4 month after introduction of Isoniazid as part of Tuberculosis treatment.
Kveti Kriz, Marie-Claire Desax, Rein Jan Piso   +2 more
core   +1 more source

Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing [PDF]

Journal of Hematology & Oncology, 2015
Congenital sideroblastic anemias (CSAs) comprise a group of heterogenous genetic diseases that are caused by the mutation of various genes involved in heme biosynthesis, iron-sulfur cluster biogenesis, or mitochondrial solute transport or metabolism. However, approximately 40% of patients with CSA have not been found to have pathogenic gene mutations ...
An, Wenbin, Zhang, Jingliao, Chang, Lixian, Zhang, Yingchi, Wan, Yang, Ren, Yuanyuan, Niu, Deyun, Wu, Jian, Zhu, Xiaofan, Guo, Ye   +9 more
openaire   +2 more sources

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source