Results 21 to 30 of about 458 (127)

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

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

Neonatal diabetes mellitus around the world: Update 2024. [PDF]

J Diabetes Investig
Between 2018 and early 2024, six brand new NDM‐genes have been discovered and 3 genes known to cause different diseases were identified as NDM‐genes. Currently NDM genes' list exceeds forty.This genetic heterogeneity translates into many different mechanism(s) of disease that are investigated with state‐of‐the‐art methodologies, such as induced ...
Barbetti F, Deeb A, Suzuki S.
europepmc   +2 more sources

THIAMINE–RESPONSIVE MEGALOBLASTIC ANEMIA, SENSORINEURAL DEAFNESS AND DIABETES MELLITUS [PDF]

Acta Medica Iranica, 2006
- The syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. The previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption.
M. Kadivar R. Moradian, T. Zaman
doaj   +2 more sources

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

, 2022
Pediatric Diabetes, Volume 23, Issue 8, Page 1188-1211, December 2022.
Siri Atma W. Greeley, Michel Polak, Pål R. Njølstad, Fabrizio Barbetti, Rachel Williams, Luis Castano, Klemens Raile, Dung Vu Chi, Abdelhadi Habeb, Andrew T. Hattersley, Ethel Codner   +10 more
wiley   +1 more source

A Novel Mutation in the SLC19A2 Gene in a Turkish Female with Thiamine-responsive Megaloblastic Anemia Syndrome [PDF]

Journal of Tropical Pediatrics, 2008
Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature, we highlight the recognition of this syndrome--when megaloblastic anemia and diabetes mellitus ...
Kocak, Uelker, Yesilkaya, Ediz, BİDECİ, AYSUN, Temizkan, Meltem, Kaya, Zuehre, Cinaz, Peyami, Bozkaya, Davut, Koc, Altug, Camurdan, Orhun   +8 more
openaire   +4 more sources

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

BMC Pediatrics, 2019
Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus.
Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang, Xiumin Wang   +6 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

FIGO good practice recommendations on anemia in pregnancy, to reduce the incidence and impact of postpartum hemorrhage (PPH)

International Journal of Gynecology &Obstetrics, Volume 171, Issue 3, Page 993-1007, December 2025.
Abstract Anemia affects 32 million pregnant women globally, contributing annually to more than 115 000 maternal deaths and 591 000 perinatal deaths worldwide. Low‐ and middle‐income countries (LMICs) bear the highest burden of anemia in pregnancy, with nearly 50% of affected pregnant women. It is now 2025, which is WHO's target year for a 50% reduction
Akaninyene E. Ubom, Ferdousi Begum, Diana Ramasauskaite, Albaro J. Nieto‐Calvache, Monica Oguttu, Inês Nunes, Zechariah J. Malel, Jolly Beyeza‐Kashesya, Alison Wright, on behalf of the FIGO Committee on Childbirth and Postpartum Hemorrhage   +9 more
wiley   +1 more source

Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis

BMC Pediatrics, 2019
Background Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded.
Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding, Aihua Yin   +5 more
doaj   +1 more source