Results 61 to 70 of about 210,000 (180)

Acute and Chronic Pancreatitis in Mitochondrial Disease: A Systematic Review

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mitochondrial disease is a common inherited multisystem neurometabolic disorder. Pancreatic dysfunction is a recognised manifestation, most frequently presenting as mitochondrial diabetes. Although pancreatitis cases have been reported in association with mitochondrial disease, acute and chronic pancreatitis in this context remain poorly ...
Olivia Hahl, Mika H. Martikainen
wiley   +1 more source

Table1_Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.docx

, 2023
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine–cytosine–adenosine tRNA nucleotidyltransferase 1 (TRNT1).
Suyun Cheng (14703256), Fang Fu (507742), Xiangyuan Chen (9658136), Huasong Zeng (7469195), Xiaolan Mo (7469189)   +4 more
core   +1 more source

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. [PDF]

PLoS ONE, 2008
Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts.
Jacqueline Boultwood, Andrea Pellagatti, Maryam Nikpour, Beena Pushkaran, Carrie Fidler, Helen Cattan, Tim J Littlewood, Luca Malcovati, Matteo G Della Porta, Martin Jädersten, Sally Killick, Aristoteles Giagounidis, David Bowen, Eva Hellström-Lindberg, Mario Cazzola, James S Wainscoat   +15 more
doaj   +1 more source

Integrated Phytochemical and Pharmacological Investigation of Mentha aquatica L.: Anti‐Inflammatory, Analgesic, and Safety Evidence From In Vivo Studies

Food Science &Nutrition, Volume 14, Issue 8, August 2026.
Mentha aquatica decocted extract contained mainly phenolic acids and showed a favorable oral safety profile in mice, with no significant subacute toxicity. Intraperitoneal administration caused dose‐dependent toxicity. The extract exhibited significant dose‐dependent anti‐inflammatory and analgesic activities in rodent models, supporting its potential ...
Meryem Tourabi, Khaoula Faiz, Rafik EL‐Mernissi, Bouchra Louasté, Mohammed Merzouki, Karima El‐Yagoubi, Layla Tahiri Elousrouti, Abdel‐Rhman Z. Gaafar, Mulugeta Tesemma, Esmael M. Alyami, Ohoud A. Alghamdi, Musa A. Said, Hina Ali, Badiaa Lyoussi, Elhoussine Derwich   +14 more
wiley   +1 more source

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

, 2016
X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow.
de la Iglesia Iñigo, Silvia, María‐Isabel Moreno‐Carralero, Manuel Méndez, Morán-Jiménez, María-José, Fernández-Jiménez, María-Cristina, Silvia de la Iglesia Iñigo, Marta Morado‐Arias, Moreno-Carralero, María-Isabel, María‐Cristina Fernández‐Jiménez, María‐José Morán‐Jiménez, Méndez, Manuel, Morado-Arias, Marta   +11 more
core   +1 more source

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

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

Combination Therapy With Proton Pump Inhibitors and Iron Chelators in Hereditary Anaemias With Secondary Iron Overload

eJHaem, Volume 7, Issue 5, October 2026.
Thomas Doeven, Annelies van Vuren, Andreas Glenthøj, Jean Louis Kerkhoffs, Saskia E. M. Schols, Anita Rijneveld, Erfan Nur, Dore Peereboom, Paco Welsing, Roger Schutgens, Bart J. Biemond, Eduard J. van Beers   +11 more
wiley   +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