Results 71 to 80 of about 156,004 (159)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia

Cellular Physiology and Biochemistry, 2018
Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss ...
Xiaoying Xian, Lin Liao, Wei Shu, Hongtao Li, Yuanyuan Qin, Jie Yan, Jianming Luo, Fa-Quan Lin   +7 more
doaj   +1 more source

Hematologic features among anemic Cameroonian pregnant women: a cross sectional study

The Pan African Medical Journal, 2015
INTRODUCTION: iron deficiency anemia is the leading cause of anemia worldwide. It may also be the leading cause of anemia in pregnancy, although this has not yet been demonstrated in our country.
Elie Nkwabong, Joseph Nelson Fomulu
doaj   +1 more source

Megaloblastic anemia in North Africa

Haematologica, 2006
We prospectively studied 478 patients with megaloblastic anemia living in Tunisia. Overall, 98% of patients had vitamin B12 deficiency. Pernicious anemia accounted for most of these cases, and median age at presentation was 45 years. Megaloblastic anemia
C Maktouf, A Bchir, H Louzir, M Mdhaffer, M Elloumi, H Ben Abid, B Meddeb, F Makni, A Laatiri, T Soussi, A Hafsia, K Dellagi   +11 more
doaj  

Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state

Asian Journal of Transfusion Science, 2010
Background : Anemias are the blood disorders characterized by reduction in the number of circulating red blood cells, the amount of hemoglobin, or the volume of packed red cells in blood.
Upma, Kumar Parvinder, Raina T, Sharma Kuldeep, Gupta Subash   +4 more
doaj  

Megaloblastic and Iron Deficiency Anemia

, 2002
Megaloblastic and moderate iron deficiency anemia ...
Lawrence, Christine
core  

Biermer’s disease unveiled: Bilateral macular hemorrhage as a rare manifestation—A case report

SAGE Open Medical Case Reports
The patient, a 30-year-old woman, presented with a sudden, painless, and severe decrease in vision in both eyes. The ophthalmological examination revealed a normal anterior segment and intraocular pressure, but a fundus examination showed bilateral ...
Ben Addou Idrissi Sara, Himmich Mohammed, Moutei Hassan, Bennis Ahmed, Chraibi Fouad, Abdellaoui Meriem, Benatiya Andaloussi Idriss   +6 more
doaj   +1 more source

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Indian Journal of Endocrinology and Metabolism, 2012
Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein.
Mohd Ashraf Ganie, Imran Ali, A G Ahangar, Mohd Maqbool Wani, Sanjeed Ahmed, Manzoor Ahmed Bhat, Sulaiman Seth, Syed Mudasir   +7 more
doaj   +1 more source

MEGALOBLASTIC ANAEMIA PRESENTING AS PYREXIA-AN INTERESTING CASE REPORT

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Megaloblastic anemia is a rare cause of pyrexia. We report the case of a patient who presented with fever, anemia and thrombocytopenia. After ruling out infective, inflammatory and endocrine causes and correlating with vitamin B12 and folic acid levels ...
Deepak Jain, Promil Jain, Hari krishan Aggarwal   +2 more
doaj  

Clinical characteristics of megaloblastic anemia with pancytopenia

Hematology
Objectives In this study, we aimed to explore the clinical characteristics of patients with megaloblastic anemia and pancytopenia.Methods Data on patient characteristics, laboratory examinations, clinical manifestations, and associated diseases were ...
Lin Tang, Jing Miao, Jinbi Wang
doaj   +1 more source