Results 61 to 70 of about 2,906 (149)

Thiamine– Responsive Megaloblastic Anemia Syndrome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
F Motavaselian, F Nourani, Kh Dehghani, M Kheirandish, AH Jafari, A Hashemi   +5 more
doaj  

Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping

Current Issues in Molecular Biology
Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) is a rare mitochondrial disorder caused by pathogenic variants (PVs) in the YARS2 gene (which encodes the Mt-TyrRS protein.
José Rafael Villafan-Bernal, Angélica Martínez-Hernández, Humberto García-Ortiz, Cecilia Contreras-Cubas, Israel Guerrero-Contreras, José Luis Frías-Cabrera, Federico Centeno-Cruz, Monserrat Ivonne Morales Rivera, Jhonatan Rosas Hernández, Alessandra Carnevale, Francisco Barajas-Olmos, Lorena Orozco   +11 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Diagnóstico diferencial da deficiência de ferro Differential diagnosis of iron deficiency

Revista Brasileira de Hematologia e Hemoterapia, 2010
A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro.
Perla Vicari, Maria Stella Figueiredo
doaj  

Red cell aspartate aminotransferase saturation with oral pyridoxine intake

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: The coenzyme of aspartate aminotransferase is pyridoxal phosphate, generated from fresh vegetables containing pyridoxine. Vitamin B6-responsive sideroblastic anemia, myelofibrosis and Peyronie’s syndrome respond to high pyridoxine ...
Marilena Oshiro, Kimiyo Nonoyama, Raimundo Antônio Gomes Oliveira, Orlando Cesar de Oliveira Barretto   +3 more
doaj   +1 more source

Sideroblastic anemia [PDF]

, 2020
openaire   +2 more sources

Sideroblastic anemia: An underdiagnosed rare disease

Pediatric Hematology Oncology Journal, 2022
Swetha Palla, Pankaj Sharma, Prateek Bhatia, Deepak Bansal, Reena Das, Amita Trehan   +5 more
doaj   +1 more source

SIDEROBLASTIC ANAEMIA–A HITHERTO UNRCCGNIZED CAUSE OF UNEXPLAINED ANAEMIA

Pakistan Armed Forces Medical Journal, 2018
Objective: To assess the clinicopathological heterogeneity of sideroblastic anemia disorders characterized by the presence of ring sideroblasts in the bone marrow. Study Design: Descriptive study. Place and Duration of Study: Study was conducted
Kamran Nazir Ahmad, Shawana Kamran, Tariq Sarfraz, Khurshid Ali Bangash, Aniqa Bano, Farah Bano   +5 more
doaj  

Pyrazinamide‐induced sideroblastic anemia [PDF]

American Journal of Hematology, 2011
Giuseppe, Colucci, Tobias, Silzle, Max, Solenthaler   +2 more
openaire   +2 more sources

Two new cases with Pearson syndrome and review of Hacettepe experience

The Turkish Journal of Pediatrics, 2008
Pearson syndrome (PS) is a mitochondrial disease and clinical presentation is rather varied. These patients are often subjected to extensive biochemical and clinical work-up for diagnosis.
Rezan Topaloğlu, Anne S Lebre, Erkan Demirkaya, Bariş Kuşkonmaz, Turgay Coşkun, Diclehan Orhan, Aytemiz Gürgey, Fatma Gümrük   +7 more
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