Results 31 to 40 of about 12,229 (218)

Novel Homozygous Variant in the SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia Syndrome: A Disease to Be Considered in Diabetes Clinics

Endocrinology Research and Practice
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare syndrome with an autosomal recessive manner that develops due to a mutation in the SLC19A2gene.
Burcak Cavnar Helvaci, Hanife Saat, Sema Hepsen, Özant Helvaci, Erman Cakal   +4 more
doaj   +3 more sources

Two Cases of Primary Cold Agglutinin Disease Associated with Megaloblastic Anemia

Case Reports in Hematology, 2015
We report two cases of primary cold agglutinin disease (CAD) associated with megaloblastic anemia in Japanese elderly patients. Case 1 was a 67-year-old male and Case 2 was a 55-year-old male.
Shinsaku Imashuku, Naoko Kudo, Katsushige Takagishi, Katsuyasu Saigo   +3 more
doaj   +1 more source

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

The Turkish Journal of Pediatrics, 2019
Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus.
Işık Odaman-Al, Alper Gezdirici, Melek Yıldız, Gizem Ersoy, Gönül Aydoğan, Zafer Şalcıoğlu, Tuba Nur Tahtakesen, Hasan Önal, Banu Küçükemre-Aydın   +8 more
doaj   +1 more source

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]

, 2016
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda, Fernández-Ramos, Joaquín A, Friedman, Jennifer, Garcia-Cazorla, Àngels, Honzik, Tomas, Horvath, Gabriella, International Working Group on Neurotransmitter related disorders (iNTD), Jeltsch, Kathrin, Jung-Klawitter, Sabine, Kurian, Manju A, Kuseyri, Oya, Lopez-Laso, Eduardo, Mastrangelo, Mario, Opladen, Thomas, Pearson, Toni, Pons, Roser, Scholl-Bürgi, Sabine, Wassenberg, Tessa   +17 more
core   +1 more source

The Intake of Junk Food as an Etiological Factor of Megaloblastic Anemia in Patients visiting Mayo Hospital, Lahore

Journal of University College of Medicine and Dentistry, 2023
Objective: The study was performed to determine role of junk food intake in the development of megaloblastic anemia. Methodology: It was a clinical based cross-sectional study conducted at Mayo Hospital Lahore in collaboration with Pathology ...
Zunairah Mughal, Dr, Hira Babar, Raana Akhtar, Dr, Ambareen Hamid, Dr, Sobia Ashraf, Dr, Samina Qamar, Dr   +5 more
doaj   +1 more source

Anaemia – a pale ale? [PDF]

, 2017
Despite some modest improvements described recently, anaemia remains a significant global public health concern affecting both developed and developing countries.
Muntingh, G. L., Viljoen, M.
core   +2 more sources

Potential Impact of Large‐Scale Food Fortification in Ethiopia: Coverage and Knowledge of Fortifiable Foods

Maternal &Child Nutrition, EarlyView.
Coverage of fortifiable oil, salt, and wheat flour by wealth quintiles. ABSTRACT Large‐scale food fortification (LSFF) is an effective public health measure because it may reach a large number of populations at risk using current food delivery systems.
Aregash Samuel, Ramadhani Noor, Nahom Tefera, Alemayehu Hussien, Genet Gebremedhin, Mduduzi Mbuya, Endale Amare, Meseret Woldeyohannes, Getinet Fikresilassie, Meron Girma, Alemnesh Petros, Anbissa Muleta, Bedasa Tessema, Feyissa Chala, Kaleab Baye, Arnaud Laillou, Tesfaye Chuko, Getachew Tollera, Mesay Hailu, Stanley Chitekwe, Masresha Tessema   +20 more
wiley   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial [PDF]

, 2014
Background: B vitamins play an important role in homocysteine metabolism, with vitamin deficiencies resulting in increased levels of homocysteine and increased risk for stroke.
Al-Tahan, Aminoff, Aminoff, Donato, Fyfe, Grarup, Grasbeck, Hazra, Hazra, Hsu, Imerslund, Kamatani, Kirsch, Koury, Krintel, Kristiansen, Laurie, Lee, Li, Lin, Manichaikul, Matchar, McDowell, Nguyen, Ntaios, Owczarek-Lipska, Pennypacker, Pruim, Rajan, Reynolds, Selhub, Spence, Spinneker, Stabler, Stone, Stover, Tanaka, Tanner, Toole, Toole, Toprak, Van Den Bossche, Vardy, Wald, Wang, Wang, Webb, Yetley   +47 more
core   +2 more sources

Downstream Treatment Burden and Health‐Care Utilization Following Initiation of GLP‐1 Receptor Agonists or SGLT2 Inhibitors in Type 2 Diabetes

Diabetes, Obesity and Metabolism, Volume 28, Issue 6, Page 5163-5173, June 2026.
ABSTRACT Aims Glucagon‐like peptide‐1 (GLP‐1) receptor agonists and sodium–glucose cotransporter 2 (SGLT2) inhibitors are widely used for the treatment of type 2 diabetes, yet their downstream consequences in routine clinical practice remain incompletely characterized.
Yazan Alhamdan, Jason C. Hsu, Christine Y. Lu   +2 more
wiley   +1 more source