Results 21 to 30 of about 563,023 (137)
Indian Journal of Health Sciences and Biomedical Research (KLEU), 2018 Reporting a rare and treatable case of thiamine responsive Megaloblastic Anemia with Sensori-neural Hearing Loss with Diabetes Mellitus in a 6 year old child due to SLC19A2 mutation. Simple thiamine treatment is cost effective and can reverse this disorder except hearing loss.
Tanmaya Metgud +4 more
openaire +2 more sources
Arrhythmia in thiamine responsive megaloblastic anemia syndrome [PDF]
The Turkish Journal of Pediatrics, 2018 Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness.
Mustafa Argun +6 more
doaj +2 more sources
An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia
Indian Journal of Pathology and MicrobiologyRogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness.
Gurpreet Kaur +4 more
doaj +2 more sources
A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia. [PDF]
Int J Pediatr Endocrinol, 2015 Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents.
Tahir S +5 more
europepmc +4 more sources
Neonatal diabetes mellitus around the world: Update 2024. [PDF]
J Diabetes InvestigBetween 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
The Concise Guide to PHARMACOLOGY 2023/24: Transporters
British Journal of Pharmacology, Volume 180, Issue S2, Page S374-S469, October 2023., 2023 The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander +27 more
wiley +1 more source
Clinical Case Reports, Volume 11, Issue 4, April 2023., 2023 Abstract We present these two cases to emphasize the necessity of critical thinking and high suspicion of the disease (Rogers syndrome) to avoid potentially fatal situations due to its rarity and the importance of early treatment.
Yara Deeb +4 more
wiley +1 more source
Journal of Diabetes Investigation, Volume 14, Issue 4, Page 516-521, April 2023., 2023 Abstract The MNX1 gene encodes a homeobox transcription factor found to be important for pancreatic beta cell differentiation and development. Mutations of the MNX1 gene that cause permanent neonatal diabetes mellitus (PNDM) are rare and have been reported in only two cases.
Hanan Hassan Aly +3 more
wiley +1 more source
Differential expression of SLC19A2 in amyotrophic lateral sclerosis.
, 2023 Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2).
Shahan Mamoor
core +1 more source
, 2023 American Journal of Hematology, Volume 98, Issue 11, Page 1814-1815, November 2023.
Benoit Thomas +4 more
wiley +1 more source