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Quoted phrase not found in phrase index: "Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness"
Page 1
Thiamine-responsive megaloblastic anaemia.
Veetil VM, Pachat D, Nikitha K, Kutty JM. Veetil VM, et al. Natl Med J India. 2023 Sep-Oct;36(5):314-315. doi: 10.25259/NMJI_20_21. Natl Med J India. 2023. PMID: 38759983
Thiamine-responsive megaloblastic anemia syndrome.
Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F. Bay A, et al. Int J Hematol. 2010 Oct;92(3):524-6. doi: 10.1007/s12185-010-0681-y. Epub 2010 Sep 11. Int J Hematol. 2010. PMID: 20835854
Thiamine responsive megaloblastic anemia.
Mathews L, Narayanadas K, Sunil G. Mathews L, et al. Indian Pediatr. 2009 Feb;46(2):172-4. Indian Pediatr. 2009. PMID: 19242038 Free article.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. ...
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndr …
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium; Hattersley AT, Ellard S, De Franco E. Habeb AM, et al. Diabetologia. 2018 May;61(5):1027-1036. doi: 10.1007/s00125-018-4554-x. Epub 2018 Feb 15. Diabetologia. 2018. PMID: 29450569 Free PMC article.
METHODS: We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical details were collected through a follow-up questionnaire. ...
METHODS: We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical deta …
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A, Martí-Sánchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B. Marcé-Grau A, et al. J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24. J Inherit Metab Dis. 2019. PMID: 31095747 Review.
In a significant number of patients with SLC19A3, thiamine improves clinical outcome and survival, and prevents further metabolic crisis. In SLC25A19 and TPK1 defects, thiamine has also led to clinical stabilization in single cases. Moreover, thiamine supplementatio …
In a significant number of patients with SLC19A3, thiamine improves clinical outcome and survival, and prevents further metabolic cri …
Arrhythmia in thiamine responsive megaloblastic anemia syndrome.
Argun M, Baykan A, Hatipoğlu N, Akın L, Şahin Y, Narin N, Kurtoğlu S. Argun M, et al. Turk J Pediatr. 2018;60(3):348-351. doi: 10.24953/turkjped.2018.03.021. Turk J Pediatr. 2018. PMID: 30511554 Free article.
Argun M, Baykan A, Hatipoglu N, Akin L, Sahin Y, Narin N, Kurtoglu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351. Thiamine responsive megaloblastic anemia synd …
Argun M, Baykan A, Hatipoglu N, Akin L, Sahin Y, Narin N, Kurtoglu S. Arrhythmia in thiamine responsive megaloblastic …
Thiamine responsive megaloblastic anemia syndrome.
Ganesh R, Ezhilarasi S, Vasanthi T, Gowrishankar K, Rajajee S. Ganesh R, et al. Indian J Pediatr. 2009 Mar;76(3):313-4. doi: 10.1007/s12098-009-0058-5. Epub 2009 Apr 6. Indian J Pediatr. 2009. PMID: 19347672
Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. ...
Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thia …
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.
Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, Fedi L, Iafusco F, Arrigoni F, Malesci R, Simonelli F, Rigamonti A, Franzese A, Mozzillo E. Di Candia F, et al. Ital J Pediatr. 2023 Nov 30;49(1):158. doi: 10.1186/s13052-023-01553-1. Ital J Pediatr. 2023. PMID: 38037112 Free PMC article.
In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no bli …
In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic ane …
Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.
Khurshid A, Fatimah S, Altaf C, Malik HS, Sajjad Z, Khadim MT. Khurshid A, et al. J Coll Physicians Surg Pak. 2018 Sep;28(9):S169-S171. doi: 10.29271/jcpsp.2018.09.S169. J Coll Physicians Surg Pak. 2018. PMID: 30173687
The hearing assessment revealed sensorineural hearing loss. Blood sugar random and HBA1c was raised. Final diagnosis of TRMA was made. She was started on thiamine 100 mg OD, with normal routine balanced diet. ...
The hearing assessment revealed sensorineural hearing loss. Blood sugar random and HBA1c was raised. Final diagnosis of TRMA was made …
39 results