Results 31 to 40 of about 511,787 (144)

Chelation therapy in children

Медицинский совет, 2016
Iron overload (RV) is a condition caused by excessive intake of iron, and in the absence of the specific mechanisms for its excretion - excessive accumulation in tissues and their subsequent lesion leading to functional organ failure [1].
M. V. Krasolnikova
doaj   +1 more source

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels

Frontiers in Physiology, 2020
Iron loading anemias are characterized by ineffective erythropoiesis and iron overload. The prototype is non-transfusion dependent ß-thalassemia (NTDT), with other entities including congenital sideroblastic anemias, congenital dyserythropoietic anemias,
Acaynne Lira Zidanes, Acaynne Lira Zidanes, Giacomo Marchi, Giacomo Marchi, Fabiana Busti, Fabiana Busti, Alessandro Marchetto, Elisa Fermo, Alejandro Giorgetti, Alice Vianello, Alice Vianello, Annalisa Castagna, Annalisa Castagna, Oliviero Olivieri, Oliviero Olivieri, Paola Bianchi, Domenico Girelli, Domenico Girelli   +17 more
doaj   +1 more source

Dolutegravir‐induced acquired sideroblastic anemia in a HIV positive patient: A challenging hematologic complication

, 2023
Key Clinical Message Dolutegravir, the most recent antiretroviral drug with high efficacy, good tolerability, infrequent drug–drug interactions, and a favorable safety profile has not been reported in current literature as a cause of acquired ...
Divas Adhikari, Kiran Dhonju, Sampurna Tuladhar, Sabin Banmala, Prabhat Adhikari, Lina Devkota, Abhinav Dahal, Bishnu Deep Pathak, Ashmita Gautam, Niraj Kumar Sharma   +9 more
core   +1 more source

Nonmyeloablative allogeneic hematopoietic stem cell transplantation for congenital sideroblastic anemia [PDF]

Bone Marrow Transplantation, 2003
Congenital sideroblastic anemia (CSA) is a dyserythropoietic disorder that leads to transfusion dependency and subsequent iron overload. Nonmyeloablative allogeneic hematopoietic stem cell transplantation (NST) was performed for a patient with CSA, who had contraindications to conventional allografting. Conditioning was fludarabine, low-dose total body
B C, Medeiros, J F, Kolhouse, P J, Cagnoni, J, Ryder, Y, Nieto, R, Rabinovitch, E J, Shpall, S I, Bearman, R B, Jones, P A, McSweeney   +9 more
openaire   +2 more sources

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Sideroblastic Anemia -1

, 2014
An image from a peripheral blood smear showing numerous tear cells in sideroblastic ...
Fraser, Marion
core   +1 more source

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options

Journal of Blood Medicine, 2020
Ghaith Abu-Zeinah, Maria T DeSancho Division of Hematology and Oncology, Department of Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY, USACorrespondence: Ghaith Abu-ZeinahWeill Cornell Medicine, New York Presbyterian ...
Abu-Zeinah G, DeSancho MT
doaj  

Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects

Genes and Diseases, 2020
Mutations in the gene encoding transfer RNA (tRNA) nucleotidyltransferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3′-terminal CCA sequence in tRNA molecules, are associated with a rare syndrome of congenital sideroblastic ...
Lu Yang, Xiuhong Xue, Ting Zeng, Xuemei Chen, Qin Zhao, Xuemei Tang, Jun Yang, Yunfei An, Xiaodong Zhao   +8 more
doaj   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, Volume 110, Issue 5, Page 574-583, November 2026.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Sideroblastic Anemia - 2

, 2014
A peripheral blood smear picture showing a dimorphic RBC population and tear cells in sideroblastic ...
Fraser, Marion
core   +1 more source