Results 41 to 50 of about 158,381 (194)

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, EarlyView.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 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

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations [PDF]

, 2014
X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5 ...
van Wijk, Richard, Bottomley, Syliva S., Anoop K. Sendamarai, Fleming, M.D., Raymakers, R.A.P., Klaus Schmitz‐Abe, Swinkels, Dorine W, Sendamarai, Anoop K, Campagna, Dean R, Caroline Kannengiesser, de Bie, Charlotte I, Swinkels, D.W., Campagna, Dean R., Swart, S., Knoers, Nine V A M, Nine V.A.M. Knoers, Heeney, Matthew M., Raymakers, Reinier A., Schmitz-Abe, K., Schmidt, P.J., Sonia Swart, de Bie, Charlotte I., Charlotte M. Niemeyer, Yntema, Helger G, Alison May, Gordon Marron, Dean R. Campagna, Bottomley, Sylvia S., Sendamarai, A.K., Niemeyer, Charlotte Marie, Niemeyer, Charlotte M, Campagna, D.R., Schmidt, Paul J., Markianos, K., Kyriacos Markianos, Kannengiesser, Caroline, Markianos, Kyriacos, May, A., Bernard Grandchamp, Heeney, M.M., Bottomley, Sylvia S, Bie, C.I. De, Niemeyer, C.M., Grandchamp, Bernard, Swinkels, Dorine W., Heeney, Matthew M, Reinier A. Raymakers, Helger G. Yntema, Bottomley, S.S., Sweeney, Marion Carol, Bie, Charlotte I. de, Knoers, N.V.A.M., Paul J. Schmidt, Marron, G., Charlotte I. de Bie, Sweeney, M., Raymakers, Reinier A, Mark D. Fleming, Kannengiesser, C., Marron, Gordon, Swart, Sonia, Fleming, Mark D., Yntema, Helger G., Niemeyer, Charlotte M., Knoers, Nine V. A. M., Sendamarai, Anoop K., Fleming, Mark D, May, Alison, Sylvia S. Bottomley, Wijk, R. van, Marion Sweeney, Dorine W. Swinkels, Schmitz-Abe, Klaus, Schmidt, Paul J, Matthew M. Heeney, Sweeney, Marion, Richard van Wijk, Grandchamp, B., Yntema, H.G.   +78 more
core   +2 more sources

Central Nervous System Recurrence in a Patient Treated for Acute Promyelocytic Leukemia, Resulting in Sideroblastic Anemia: A Case Report

, 2022
BACKGROUND Previous cases that have been stated in this article have displayed that around 1% to 7% of patients that have been treated with chemotherapy for acute promyelocytic leukemia developed myelodysplastic syndrome or acute myeloid leukemia.
Morse, William J, Nawaz, Haroon, Choudhry, Ayesha   +2 more
core   +1 more source

Sideroblastic Anemia

Kaur A, Chhabra A.
europepmc   +3 more sources

ICSH Guidance on Bone Marrow Examination and Reporting

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Examination of the bone marrow (BM) remains fundamental to the diagnosis, classification, prognostication, and monitoring of hematolymphoid and other disorders affecting blood cell production. Since publication of the International Council for Standardization in Haematology (ICSH) guideline in 2008, advances in diagnostic technologies, disease
Wendy N. Erber, Alexandar Tzankov, Olga Pozdnyakova, Hiromichi Matsushita, Gina Zini, Leonie Saft, on behalf of the International Council for Standardization in Haematology   +6 more
wiley   +1 more source

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

Frontiers in Pediatrics, 2023
The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs.
Cui-Jie Wei, Yi-Dan Liu, Yan-Ling Yang, Yuan Wu, Jie-Yu Liu, Xing-Zhi Chang, Ying Hua, Yu-He Liu, Hui Xiong   +8 more
doaj   +1 more source

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

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

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