Results 31 to 40 of about 565,186 (153)

Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia

Annales d'Endocrinologie, 2008
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder including megaloblastic anemia, thrombocytopaenia, diabetes mellitus and progressive sensorineural deafness. We report cases of two infants, aged respectively four and five months, hospitalized for diabetic-acido-ketosis requiring insulin therapy.
O, Bouyahia, M, Ouderni, F, Ben Mansour, N, Matoussi, F, Khaldi   +4 more
openaire   +2 more sources

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

, 2017
Background. Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus.
Koker, Sultan Aydin, Tunc, Selma, Ay, Yilmaz, Korkmaz, Huseyin A., Karapinar, Tuba H., Ozkan, Behzat, Katipoglu, Nagehan, Oymak, Yesim, Vergin, Canan, Nalbantoglu, Ozlem, Yildiz, Melek, Hazan, Filiz, DEMİR, KORCAN   +12 more
core   +1 more source

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

Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia

Türk Kardiyoloji Derneği Arşivi, 2013
Despite advances in device closure for atrial septal defect, post-closure heart failure remains a clinical problem in adult patients but is seen only rarely in children.
Vehbı Dogan, Filiz Şenocak, Utku Arman Örün, Özben Ceylan   +3 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

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Acute Ischemic Stroke in a Young Woman with the Thiamine-Responsive Megaloblastic Anemia Syndrome [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2000
We report the case of a 20-yr-old girl with thiamine-responsive megaloblastic anemia (TRMA) associated with diabetes mellitus and bilateral sensorineural deafness (1, 2). Megaloblastic anemia was diagnosed at 7 months and was successfully treated with multiple vitamin preparations.
V. VILLA, RIVELLESE, ANGELA ALBAROSA, F. DI SALLE, C. IOVINE, V. POGGI, CAPALDO, BRUNELLA   +5 more
openaire   +4 more sources

The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2 [PDF]

, 2021
A rare cause of megaloblastic anemia (MA) is thiamine-responsive megaloblastic anemia (TRMA), a genetic disorder caused by mutations in SLC19A2 (encoding THTR1), a thiamine transporter.
Ngo, Huy, Giacomini, Kathleen M, Vora, Bianca, Chatad, Derrick, Enogieru, Osatohanmwen J, Yee, Sook Wah, Koleske, Megan L, Sirota, Marina, Huy Ngo, Kathleen M. Giacomini, Sook Wah Yee, Bianca Vora, Megan L. Koleske, Osatohanmwen J. Enogieru, Derrick Chatad, Marina Sirota   +15 more
core   +1 more source