Results 41 to 50 of about 210,000 (180)

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms

Diagnostics, 2022
Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification.
Sandrine Girard, Franck Genevieve, Emmanuelle Rault, Odile Fenneteau, Jean-François Lesesve   +4 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
core   +1 more source

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up

Molecular Genetics and Metabolism Reports, 2019
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from
Jeremy Woods, Stephen Cederbaum
doaj   +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

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
core   +1 more source

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

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

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