Results 41 to 50 of about 8,373,614 (131)

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 747-756, August 2026.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +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

Onset of X-linked sideroblastic anemia in the fourth decade

Haematologica, 2004
We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C).
E Cortesao, J Vidan, J Pereira, P Goncalves, ML Ribeiro, G Tamagnini   +5 more
doaj  

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

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

European Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais, Alessandra Pennisi, Alexandre Pierga, Alice Lepelley, Nicolas Cagnard, Christine Bole, Patrick Nitschke, Mohamed Hamici, Frédéric Rieux‐Laucat, Manuel Schiff, Arnold Munnich, Agnès Rötig   +11 more
wiley   +1 more source

Characterizing Aft1/2-Grx3/4 Interaction and the Role of Bol2 During Iron Regulation in Saccharomyces cerevisiae [PDF]

, 2019
Iron dysregulation has been linked to a variety of human diseases, such as anemia, Friedreich’s ataxia, X-linked sideroblastic anemia, sideroblastic-like microcytic anemia, and myopathy.
Rivers, William
core   +1 more source

Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A) [PDF]

Pediatric Research, 1999
X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the
R, Allikmets, W H, Raskind, A, Hutchinson, N D, Schueck, M, Dean, D M, Koeller   +5 more
openaire   +3 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