Results 41 to 50 of about 170,027 (191)

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man

BMC Medical Genomics, 2021
Background X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2).
Jinbo Huang, Meili Ge, Yingqi Shao, Min Wang, Peng Jin, Jiali Huo, Xingxin Li, Jing Zhang, Neng Nie, Yizhou Zheng   +9 more
doaj   +1 more source

Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis

Clinical Pediatric Hematology-Oncology, 2022
We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe
Muhammad Matloob Alam, Abdulrhman Alathaibi, Ruwayd Adel Attar, Muhammad Kashif, Hamdan Saeed Al-Ghamdi, Sultan Abdulaziz Alharthi, Abdulmohsen Bokhary, Muteb Althomali   +7 more
doaj   +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

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

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
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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 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
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A Case Report of Decompensated Cirrhosis of Liver with Sideroblastic Anemia. [PDF]

, 2015
UNLABELLED: A 35-year-old man was admitted to hospital with severe anemia. Two years back, he had presented with bleeding esophageal varices and subsequently diagnosed as a case of chronic liver disease with portal hypertension.
LutfulMubin, A, Rahman, S, Mahtab, M-A, Ahmad Khandokar, F, Mohammad Noor-E-Alam, S, Rahim, A   +5 more
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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

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