Page last updated: 2024-10-20

thiamine and Cochlear Hearing Loss

thiamine has been researched along with Cochlear Hearing Loss in 57 studies

thiamine(1+) : A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.

Research Excerpts

ExcerptRelevanceReference
"Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive inherited disorder characterised by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness."7.88Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child. ( Altaf, C; Fatima, S; Khadim, MT; Khurshid, A; Malik, HS; Sajjad, Z, 2018)
" Arrhythmia in thiamine responsive megaloblastic anemia syndrome."7.88Arrhythmia in thiamine responsive megaloblastic anemia syndrome. ( Akın, L; Argun, M; Baykan, A; Hatipoğlu, N; Kurtoğlu, S; Narin, N; Şahin, Y, 2018)
"Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness."7.75Thiamine responsive megaloblastic anemia syndrome. ( Ezhilarasi, S; Ganesh, R; Gowrishankar, K; Rajajee, S; Vasanthi, T, 2009)
"Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine-responsive anemia."7.72Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. ( Calikoglu, AS; Lagarde, WH; Moats-Staats, BM; Underwood, LE, 2004)
"Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment."7.69Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. ( Barrett, T; Buist, N; Cohen, N; Fauré, S; Mandel, H; Neufeld, EJ; Raz, T; Stagg, A; Szargel, R; Yandava, CN, 1997)
"This case demonstrates Leber congenital amaurosis can present as the first clinical feature before systemic manifestations."5.72Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome. ( Sui, R; Sun, Z; Wu, S; Yao, F; Yuan, Z, 2022)
"Rogers syndrome is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus, and sensorineural deafness."5.32Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family. ( Aronheim, A; Assaraf, YG; Baron, D; Drori, S, 2003)
"Wolfram syndrome, Kearns-Sayre syndrome, thiamine-responsive megaloblastic anemia, and maternally inherited diabetes and deafness are genetic disorders characterized by diabetes, impaired hearing, and vision."5.22Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision. ( Gruber, N; Pinhas-Hamiel, O, 2022)
"Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness."5.01[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review]. ( Castioni, J; Lu, H; Tran, C; Vaucher, J; Vollenweider, P, 2019)
"Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes."4.31An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment. ( Arrigoni, F; Bonfanti, R; Di Candia, F; Di Iorio, V; Fedi, L; Franzese, A; Iafusco, F; Iovino, C; Malesci, R; Mozzillo, E; Rigamonti, A; Rosanio, FM; Simonelli, F; Tinto, N, 2023)
" Thiamine supplementation corrected anemia and diabetes mellitus but did not improve the hearing defect."4.02Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia. ( Li, G; Qiao, Y; Shang, X; Sun, Y; Wang, Z; Zhang, S; Zhuang, J, 2021)
"Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare disease comprising a classic triad of megaloblastic anemia, diabetes mellitus, and early-onset sensorineural deafness."3.91An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome. ( Kutlucan, A, 2019)
"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."3.91TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report. ( Cheng, Q; Ding, Y; Li, Q; Li, X; Wang, J; Wang, X; Yao, R, 2019)
"Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive inherited disorder characterised by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness."3.88Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child. ( Altaf, C; Fatima, S; Khadim, MT; Khurshid, A; Malik, HS; Sajjad, Z, 2018)
" Arrhythmia in thiamine responsive megaloblastic anemia syndrome."3.88Arrhythmia in thiamine responsive megaloblastic anemia syndrome. ( Akın, L; Argun, M; Baykan, A; Hatipoğlu, N; Kurtoğlu, S; Narin, N; Şahin, Y, 2018)
"Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness."3.80Thiamine responsive megaloblastic anemia: the puzzling phenotype. ( Al Zadjali, S; Alrawas, A; Bashir, W; Beshlawi, I; Elshinawy, M; Wali, Y, 2014)
"A female child presented with Leber's congenital amaurosis at 10 months of age, later diagnosed with hearing impairment at 1 year, diabetes mellitus and megaloblastic anemia at 3 and a half years of age and hence as a case of thiamine responsive megaloblastic anemia."3.80Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report. ( Arokiasamy, T; Meenakshi, S; Murali, K; Soumittra, N; Srikrupa, NN, 2014)
"Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene."3.79Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. ( Ellard, S; Haghighi, A; Saleh-Gohari, N; Setoodeh, A, 2013)
"Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss."3.79Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases. ( Abbaszadegan, MR; Baradaran-Heravi, A; Ghaemi, N; Ghahraman, M; Vakili, R, 2013)
"The thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A2 that encodes a thiamine transporter protein."3.78Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. ( Aycan, Z; Bas, VN; Onder, A; Peltek Kendirci, HN; Yilmaz Agladioglu, S, 2012)
"Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness."3.77Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome? ( Akın, L; Akın, MA; Karakükçü, M; Kendirci, M; Kurtoğlu, S, 2011)
"Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein."3.76Thiamine-responsive megaloblastic anemia syndrome. ( Bay, A; Dai, A; Gumruk, F; Hizli, S; Keskin, M; Uygun, H, 2010)
"Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness."3.75Thiamine responsive megaloblastic anemia syndrome. ( Ezhilarasi, S; Ganesh, R; Gowrishankar, K; Rajajee, S; Vasanthi, T, 2009)
"This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine."3.75Thiamine responsive megaloblastic anemia. ( Mathews, L; Narayanadas, K; Sunil, G, 2009)
"Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness."3.75Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. ( Azzalli, M; Borgna-Pignatti, C; Pedretti, S, 2009)
"Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus and progressive sensorineural deafness."3.75Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia. ( Ben Mansour, F; Bouyahia, O; Khaldi, F; Matoussi, N; Ouderni, M, 2009)
"Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive condition, characterized by megaloblastic anaemia, non-autoimmune diabetes mellitus, and sensorineural hearing loss."3.74Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood. ( Hahnemann, JM; Olsen, BS; Schwartz, M; Østergaard, E, 2007)
"Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine-responsive anemia."3.72Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. ( Calikoglu, AS; Lagarde, WH; Moats-Staats, BM; Underwood, LE, 2004)
"The triad of thiamine-responsive anaemia, diabetes mellitus and deafness has been reported in 15 patients with macrocytic anaemia, sometimes associated with moderate thrombocytopenia."3.70Thiamine-responsive myelodysplasia. ( Ayas, M; Bazarbachi, A; Haidar, JH; Muakkit, S; Salem, Z; Solh, H; Taher, A, 1998)
"Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment."3.69Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. ( Barrett, T; Buist, N; Cohen, N; Fauré, S; Mandel, H; Neufeld, EJ; Raz, T; Stagg, A; Szargel, R; Yandava, CN, 1997)
"Thiamine is a crucial cofactor involved in the maintenance of carbohydrate metabolism and participates in multiple cellular metabolic processes within the cytosol, mitochondria, and peroxisomes."2.61Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies. ( Baide-Mairena, H; Marcé-Grau, A; Martí-Sánchez, L; Ortigoza-Escobar, JD; Pérez-Dueñas, B, 2019)
"Extremely rare cases of Wernicke encephalopathy (WE) can involve sensorineural hearing loss (SNHL)."1.91A Case of Sensorineural Hearing Loss in Wernicke Encephalopathy. ( Arivoli, K; Benvenuto, A; Stucken, E, 2023)
"This case demonstrates Leber congenital amaurosis can present as the first clinical feature before systemic manifestations."1.72Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome. ( Sui, R; Sun, Z; Wu, S; Yao, F; Yuan, Z, 2022)
"Rogers syndrome is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus, and sensorineural deafness."1.32Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family. ( Aronheim, A; Assaraf, YG; Baron, D; Drori, S, 2003)
"Thiamine (75 mg/day) was commenced at a single oral dose with a rapid increase of Hb level after a few days of therapy."1.29[Wolfram syndrome. Personal experience]. ( Bizzarri, C; Conti, G; Falsini, B; Marietti, G; Perrone, F; Ricci, B; Zampino, G, 1995)

Research

Studies (57)

TimeframeStudies, this research(%)All Research%
pre-19904 (7.02)18.7374
1990's5 (8.77)18.2507
2000's15 (26.32)29.6817
2010's25 (43.86)24.3611
2020's8 (14.04)2.80

Authors

AuthorsStudies
Wu, S1
Yuan, Z1
Sun, Z1
Yao, F1
Sui, R1
Gruber, N1
Pinhas-Hamiel, O1
Arivoli, K1
Benvenuto, A1
Stucken, E1
Khaliq, S1
Di Candia, F1
Di Iorio, V1
Tinto, N1
Bonfanti, R1
Iovino, C1
Rosanio, FM1
Fedi, L1
Iafusco, F1
Arrigoni, F1
Malesci, R1
Simonelli, F1
Rigamonti, A1
Franzese, A2
Mozzillo, E2
Tong, B1
Niu, K1
Ku, W1
Xie, W1
Dai, Q1
Hellström, S1
Duan, M1
Nouira, N1
Mansouri, R1
Tlili, R1
Bhouri, I1
Sfaxi, S1
Chtourou, D1
Cheikh, MB1
Zhang, S1
Qiao, Y1
Wang, Z1
Zhuang, J1
Sun, Y1
Shang, X1
Li, G1
Xian, X1
Lin, F1
Habeb, AM1
Flanagan, SE2
Zulali, MA1
Abdullah, MA1
Pomahačová, R1
Boyadzhiev, V1
Colindres, LE1
Godoy, GV1
Vasanthi, T2
Al Saif, R1
Setoodeh, A2
Haghighi, A4
Shaalan, Y1
Hattersley, AT1
Ellard, S3
De Franco, E1
Lu, H2
Vaucher, J1
Tran, C1
Vollenweider, P1
Castioni, J1
Khurshid, A1
Fatima, S1
Altaf, C1
Malik, HS1
Sajjad, Z1
Khadim, MT1
Argun, M1
Baykan, A1
Hatipoğlu, N1
Akın, L2
Şahin, Y1
Narin, N1
Kurtoğlu, S2
Marcé-Grau, A1
Martí-Sánchez, L1
Baide-Mairena, H1
Ortigoza-Escobar, JD1
Pérez-Dueñas, B1
Kutlucan, A1
Dalwadi, P1
Joshi, AS1
Thakur, DS1
Bhagwat, NM1
Li, X1
Cheng, Q1
Ding, Y1
Li, Q1
Yao, R1
Wang, J1
Wang, X1
Saleh-Gohari, N1
Srikrupa, NN1
Meenakshi, S1
Arokiasamy, T1
Murali, K1
Soumittra, N1
Ghaemi, N1
Ghahraman, M1
Abbaszadegan, MR1
Baradaran-Heravi, A1
Vakili, R1
Beshlawi, I1
Al Zadjali, S1
Bashir, W1
Elshinawy, M1
Alrawas, A1
Wali, Y1
Liu, G1
Yang, F1
Han, B1
Liu, J1
Nie, G1
Wood, MC1
Tsiouris, JA1
Velinov, M1
Mikstiene, V1
Songailiene, J1
Byckova, J1
Rutkauskiene, G1
Jasinskiene, E1
Verkauskiene, R1
Lesinskas, E1
Utkus, A1
Gul, F1
Muderris, T1
Yalciner, G1
Sevil, E1
Bercin, S1
Ergin, M1
Babademez, MA1
Kiris, M1
Potter, K1
Wu, J1
Lauzon, J1
Ho, J1
Yeşilkaya, E1
Bideci, A1
Temizkan, M1
Kaya, Z1
Camurdan, O1
Koç, A1
Bozkaya, D1
Koçak, U1
Cinaz, P1
Mathews, L1
Narayanadas, K1
Sunil, G1
Ganesh, R1
Ezhilarasi, S1
Gowrishankar, K1
Rajajee, S1
Borgna-Pignatti, C1
Azzalli, M1
Pedretti, S1
Bouyahia, O1
Ouderni, M1
Ben Mansour, F1
Matoussi, N1
Khaldi, F1
Bay, A1
Keskin, M1
Hizli, S1
Uygun, H1
Dai, A1
Gumruk, F1
Kendirci, M1
Akın, MA1
Karakükçü, M1
Kornienko, AM1
Kornienko, RA1
Antoniv, VF1
Efimochkina, KV1
Antoniv, TV1
Popadiuk, VI1
Kakupshev, AU1
Yilmaz Agladioglu, S1
Aycan, Z1
Bas, VN1
Peltek Kendirci, HN1
Onder, A1
Atanesian, AG1
Kosiakov, SIa1
Melis, D1
Falco, M1
Fattorusso, V1
Taurisano, R1
Oishi, K1
Hofmann, S1
Diaz, GA1
Brown, T1
Manwani, D1
Ng, L1
Young, R1
Vlassara, H1
Ioannou, YA1
Forrest, D1
Gelb, BD1
NAKAHARA, K1
KANEKO, Z1
OSHITA, F1
NIWA, O1
YASUDA, Y1
NUMAKURA, M1
HONMA, T1
ONUMA, M1
Baron, D1
Assaraf, YG1
Drori, S1
Aronheim, A1
Lagarde, WH1
Underwood, LE1
Moats-Staats, BM1
Calikoglu, AS1
Manuĭlov, OE1
Bezzubenko, LA1
Buscaglia, J1
Faris, J1
Liberman, MC1
Tartaglini, E1
Fleming, JC1
Neufeld, EJ2
Alzahrani, AS1
Baitei, E1
Zou, M1
Shi, Y1
Olsen, BS1
Hahnemann, JM1
Schwartz, M1
Østergaard, E1
Pavlinec, O1
Marietti, G1
Bizzarri, C1
Perrone, F1
Zampino, G1
Conti, G1
Falsini, B1
Ricci, B1
Akinci, A1
Teziç, T1
Ertürk, G1
Tarim, O1
Dalva, K1
Mandel, H1
Raz, T1
Szargel, R1
Yandava, CN1
Stagg, A1
Fauré, S1
Barrett, T1
Buist, N1
Cohen, N1
Bazarbachi, A1
Muakkit, S1
Ayas, M1
Taher, A1
Salem, Z1
Solh, H1
Haidar, JH1
Villa, V1
Rivellese, A1
Di Salle, F1
Iovine, C1
Poggi, V1
Capaldo, B1
Bappal, B1
Nair, R1
Shaikh, H1
AI Khusaiby, SM1
de Silva, V1
Wolf, O1
Hanson, J1

Reviews

5 reviews available for thiamine and Cochlear Hearing Loss

ArticleYear
Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.
    Current diabetes reports, 2022, Volume: 22, Issue:9

    Topics: Anemia, Megaloblastic; Deafness; Diabetes Mellitus; Diabetes Mellitus, Type 2; Hearing; Hearing Loss

2022
[Defect of thiamine transport and activation and related disease].
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018, Feb-10, Volume: 35, Issue:1

    Topics: Anemia, Megaloblastic; Biological Transport; Diabetes Mellitus; Hearing Loss, Sensorineural; Humans;

2018
[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].
    La Revue de medecine interne, 2019, Volume: 40, Issue:1

    Topics: Anemia, Megaloblastic; Diabetes Mellitus; Diagnosis, Differential; Dietary Supplements; Hearing Loss

2019
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:4

    Topics: Anemia, Megaloblastic; Biological Transport; Biomarkers; Diabetes Mellitus; Hearing Loss, Sensorineu

2019
A comprehensive study of oxidative stress in sudden hearing loss.
    European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2017, Volume: 274, Issue:3

    Topics: Adult; Biomarkers; Case-Control Studies; Dexamethasone; Disulfides; Female; Free Radical Scavengers;

2017

Trials

2 trials available for thiamine and Cochlear Hearing Loss

ArticleYear
Comparison of Therapeutic Results with/without Additional Hyperbaric Oxygen Therapy in Idiopathic Sudden Sensorineural Hearing Loss: A Randomized Prospective Study.
    Audiology & neuro-otology, 2021, Volume: 26, Issue:1

    Topics: Adult; Aged; Audiometry, Pure-Tone; Combined Modality Therapy; Drugs, Chinese Herbal; Evoked Potenti

2021
[Milgamma in the treatment of chronic neurosensory hypoacusis].
    Vestnik otorinolaringologii, 2004, Issue:5

    Topics: Adjuvants, Immunologic; Adult; Aged; Chronic Disease; Hearing Loss, Sensorineural; Humans; Middle Ag

2004

Other Studies

50 other studies available for thiamine and Cochlear Hearing Loss

ArticleYear
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
    American journal of medical genetics. Part A, 2022, Volume: 188, Issue:3

    Topics: Adolescent; Anemia, Megaloblastic; Child; China; Diabetes Mellitus; Hearing Loss, Sensorineural; Hum

2022
A Case of Sensorineural Hearing Loss in Wernicke Encephalopathy.
    The Laryngoscope, 2023, Volume: 133, Issue:6

    Topics: Female; Hearing Loss, Sensorineural; Humans; Middle Aged; Thiamine; Thiamine Deficiency; Wernicke En

2023
Thiamine responsive megaloblastic anaemia complicated with acute Parvovirus infection: A case report.
    JPMA. The Journal of the Pakistan Medical Association, 2023, Volume: 73, Issue:1

    Topics: Adolescent; Anemia, Megaloblastic; Deafness; Diabetes Mellitus; Hearing Loss, Sensorineural; Humans;

2023
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.
    Italian journal of pediatrics, 2023, Nov-30, Volume: 49, Issue:1

    Topics: Adult; Anemia, Megaloblastic; Child; Deafness; Diabetes Mellitus; Early Diagnosis; Hearing Loss, Sen

2023
Relapse of rare diseases during COVID-19 pandemic: bicytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.
    The Pan African medical journal, 2020, Volume: 35, Issue:Suppl 2

    Topics: Acute Coronary Syndrome; Anemia, Megaloblastic; Betacoronavirus; Chest Pain; Coronavirus Infections;

2020
Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.
    Clinica chimica acta; international journal of clinical chemistry, 2021, Volume: 516

    Topics: Anemia, Megaloblastic; Asia; Diabetes Mellitus; Genetic Association Studies; Hearing Loss, Sensorine

2021
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
    Diabetologia, 2018, Volume: 61, Issue:5

    Topics: Alleles; Anemia, Megaloblastic; Child, Preschool; Cohort Studies; Diabetes Mellitus; Female; Genetic

2018
Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.
    Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2018, Volume: 28, Issue:9

    Topics: Anemia, Megaloblastic; Blood Glucose; Child, Preschool; Diabetes Mellitus; Female; Glycated Hemoglob

2018
Arrhythmia in thiamine responsive megaloblastic anemia syndrome.
    The Turkish journal of pediatrics, 2018, Volume: 60, Issue:3

    Topics: Anemia, Megaloblastic; Arrhythmias, Cardiac; Child, Preschool; Diabetes Mellitus; Electrocardiograph

2018
An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome.
    Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2019, Volume: 29, Issue:6

    Topics: Adult; Anemia, Megaloblastic; Blood Glucose; Diabetes Mellitus; Diabetes Mellitus, Type 1; Diagnosis

2019
Neonatal diabetes mellitus: remission induced by novel therapy.
    BMJ case reports, 2019, Jun-25, Volume: 12, Issue:6

    Topics: Administration, Oral; Anemia, Megaloblastic; Diabetes Mellitus; Diabetic Ketoacidosis; Female; Frame

2019
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
    BMC pediatrics, 2019, 07-11, Volume: 19, Issue:1

    Topics: Adult; Anemia, Megaloblastic; Arrhythmias, Cardiac; Atrophy; Brain; Cerebral Infarction; Child; Diab

2019
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
    Gene, 2013, May-01, Volume: 519, Issue:2

    Topics: Anemia, Megaloblastic; Child; Child, Preschool; Codon, Nonsense; Diabetes Mellitus; Female; Genetic

2013
Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
    Ophthalmic genetics, 2014, Volume: 35, Issue:2

    Topics: Anemia, Megaloblastic; Diabetes Mellitus; Exons; Female; Hearing Loss, Sensorineural; Humans; Infant

2014
Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.
    Journal of clinical research in pediatric endocrinology, 2013, Sep-10, Volume: 5, Issue:3

    Topics: Anemia, Megaloblastic; Child, Preschool; Consanguinity; Diabetes Mellitus; Female; Hearing Loss, Sen

2013
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
    Pediatric blood & cancer, 2014, Volume: 61, Issue:3

    Topics: Anemia, Megaloblastic; Diabetes Mellitus; Female; Hearing Loss, Sensorineural; Humans; Infant; Male;

2014
Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.
    Blood cells, molecules & diseases, 2014, Volume: 52, Issue:4

    Topics: Amino Acid Substitution; Anemia, Megaloblastic; Child; Child, Preschool; Diabetes Mellitus; DNA Muta

2014
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.
    Psychiatry and clinical neurosciences, 2014, Volume: 68, Issue:6

    Topics: Anemia, Megaloblastic; Diabetes Mellitus; Hearing Loss, Sensorineural; Humans; Ketoglutarate Dehydro

2014
Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.
    American journal of medical genetics. Part A, 2015, Volume: 167, Issue:7

    Topics: Anemia, Megaloblastic; Base Sequence; Child, Preschool; Diabetes Mellitus; Hearing Loss, Sensorineur

2015
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation.
    Journal of pediatric endocrinology & metabolism : JPEM, 2017, Feb-01, Volume: 30, Issue:2

    Topics: Anemia, Megaloblastic; Diabetes Mellitus; Female; Hearing Loss, Sensorineural; Humans; Infant; Infan

2017
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
    Journal of tropical pediatrics, 2009, Volume: 55, Issue:4

    Topics: Anemia, Megaloblastic; Child, Preschool; Diabetes Mellitus; Diagnosis, Differential; Female; Genotyp

2009
Thiamine responsive megaloblastic anemia.
    Indian pediatrics, 2009, Volume: 46, Issue:2

    Topics: Anemia, Megaloblastic; Child; Comorbidity; Diabetes Mellitus; Female; Hearing Loss, Sensorineural; H

2009
Thiamine responsive megaloblastic anemia syndrome.
    Indian journal of pediatrics, 2009, Volume: 76, Issue:3

    Topics: Anemia, Megaloblastic; Blood Glucose; Child, Preschool; Diabetes Mellitus, Type 1; Female; Follow-Up

2009
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.
    The Journal of pediatrics, 2009, Volume: 155, Issue:2

    Topics: Anemia, Megaloblastic; Diabetes Mellitus; Female; Follow-Up Studies; Hearing Loss, Sensorineural; Hu

2009
Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia.
    Annales d'endocrinologie, 2009, Volume: 70, Issue:6

    Topics: Anemia, Megaloblastic; Blood Cell Count; Bone Marrow Cells; Diabetes Mellitus; Diabetic Ketoacidosis

2009
Thiamine-responsive megaloblastic anemia syndrome.
    International journal of hematology, 2010, Volume: 92, Issue:3

    Topics: Anemia, Megaloblastic; Blood Component Transfusion; Bone Marrow; Diabetes Mellitus; Hearing Loss, Se

2010
Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?
    Journal of clinical research in pediatric endocrinology, 2011, Volume: 3, Issue:1

    Topics: Anemia, Megaloblastic; Diabetes Mellitus; Female; Hearing Loss, Sensorineural; Humans; Infant; Ketog

2011
[Sensorineural hearing loss: New prospects for therapy].
    Vestnik otorinolaringologii, 2011, Issue:2

    Topics: Adjuvants, Immunologic; Administration, Oral; Aged; Audiometry; Disease Progression; Dose-Response R

2011
[The importance of the pharmaceutical form and the routes of administration of B-group vitamins for the efficacious treatment of neurosensorial hearing loss].
    Vestnik otorinolaringologii, 2012, Issue:2

    Topics: Adult; Biopharmaceutics; Cochlear Nerve; Hearing Loss, Sensorineural; Humans; Male; Nerve Regenerati

2012
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.
    Genetic counseling (Geneva, Switzerland), 2012, Volume: 23, Issue:2

    Topics: Anemia, Megaloblastic; Child, Preschool; Diabetes Mellitus; Diagnosis, Differential; Female; Follow-

2012
[The role of neurotropic therapy in the treatment of acute sensorineural impairment of hearing following a viral infection].
    Vestnik otorinolaringologii, 2012, Issue:5

    Topics: Acute Disease; Adjuvants, Immunologic; Adult; Biological Availability; Cochlear Nerve; Drug Monitori

2012
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.
    Pediatric diabetes, 2013, Volume: 14, Issue:5

    Topics: Adult; Anemia, Megaloblastic; Child; Child, Preschool; Diabetes Mellitus; Female; Hearing Loss, Sens

2013
Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.
    Human molecular genetics, 2002, Nov-01, Volume: 11, Issue:23

    Topics: Anemia, Megaloblastic; Animals; Bone Marrow; Brain; Diabetes Mellitus; DNA Primers; Erythrocytes; Ge

2002
[2 CASES OF SLIGHT PERCEPTIVE DEAFNESS CURED BY ASPARA TABLETS].
    Jibi inkoka Otolaryngology, 1963, Volume: 35

    Topics: Aspartic Acid; Chondroitin; Deafness; Hearing Loss; Hearing Loss, Sensorineural; Humans; Tablets; Th

1963
[The use of sugarcoated alinamin in massive doses in the treatment of inner ear deafness and tinnitus aurium].
    Jibi inkoka Otolaryngology, 1962, Volume: 34

    Topics: Deafness; Ear, Inner; Hearing Loss; Hearing Loss, Sensorineural; Humans; Thiamine; Tinnitus

1962
[Experience in the use of ATP-2Na (Adephos KOWA) in inner ear deafness and tinnitus].
    Jibi inkoka Otolaryngology, 1962, Volume: 34

    Topics: Adenine Nucleotides; Adenosine Triphosphate; Deafness; Ear, Inner; Hearing Loss; Hearing Loss, Senso

1962
Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
    European journal of biochemistry, 2003, Volume: 270, Issue:22

    Topics: Amino Acid Sequence; Anemia, Megaloblastic; Animals; Aspartic Acid; Biological Transport; Cell Line;

2003
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.
    American journal of medical genetics. Part A, 2004, Mar-15, Volume: 125A, Issue:3

    Topics: Anemia, Megaloblastic; Black or African American; Diabetes Mellitus; DNA Mutational Analysis; Female

2004
Unsteady, unfocused, and unable to hear.
    The American journal of medicine, 2005, Volume: 118, Issue:11

    Topics: Adolescent; Cognition Disorders; Combined Modality Therapy; Female; Fluid Therapy; Gait Disorders, N

2005
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.
    Journal of the Association for Research in Otolaryngology : JARO, 2006, Volume: 7, Issue:3

    Topics: Animals; Auditory Perception; Hair Cells, Auditory, Inner; Hearing Loss, Sensorineural; Membrane Tra

2006
Thiamine transporter mutation: an example of monogenic diabetes mellitus.
    European journal of endocrinology, 2006, Volume: 155, Issue:6

    Topics: Adolescent; Anemia, Megaloblastic; Diabetes Mellitus, Type 1; Female; Hearing Loss, Sensorineural; H

2006
Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood.
    Pediatric diabetes, 2007, Volume: 8, Issue:4

    Topics: Anemia, Megaloblastic; Child, Preschool; Consanguinity; Diabetes Complications; Diabetes Mellitus; D

2007
[Can severe hearing damage after epidemic parotitis be prevented?].
    Ceskoslovenska pediatrie, 1982, Volume: 37, Issue:3

    Topics: Child; Child, Preschool; Female; Hearing Loss, Sensorineural; Humans; Mumps; Thiamine; Vasodilator A

1982
[Wolfram syndrome. Personal experience].
    Minerva pediatrica, 1995, Volume: 47, Issue:4

    Topics: Autoantibodies; Child, Preschool; Diabetes Mellitus, Type 1; Female; Hearing Loss, Sensorineural; Hu

1995
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.
    Acta paediatrica Japonica : Overseas edition, 1993, Volume: 35, Issue:3

    Topics: Anemia, Megaloblastic; Diabetes Mellitus, Type 1; Female; Follow-Up Studies; Hearing Loss, Sensorine

1993
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
    American journal of human genetics, 1997, Volume: 61, Issue:6

    Topics: Alaska; Anemia, Megaloblastic; Arabs; Chromosome Mapping; Chromosomes, Human, Pair 1; Consanguinity;

1997
Thiamine-responsive myelodysplasia.
    British journal of haematology, 1998, Volume: 102, Issue:4

    Topics: Child; Child, Preschool; Diabetes Mellitus, Type 1; Female; Hearing Loss, Sensorineural; Humans; Mal

1998
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome.
    The Journal of clinical endocrinology and metabolism, 2000, Volume: 85, Issue:3

    Topics: Adult; Anemia, Megaloblastic; Angiography; Diabetes Mellitus, Type 1; Female; Hearing Loss, Sensorin

2000
Five years followup of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia.
    Indian pediatrics, 2001, Volume: 38, Issue:11

    Topics: Abnormalities, Multiple; Anemia, Megaloblastic; Blood Glucose; Diabetes Mellitus; Female; Follow-Up

2001
[Results of multistep oxygen therapy in the treatment of sudden hearing loss].
    Laryngo- rhino- otologie, 1991, Volume: 70, Issue:9

    Topics: Adult; Combined Modality Therapy; Dipyridamole; Drug Combinations; Drug Therapy, Combination; Female

1991