Concepedia

Thiamine-responsive Disorders

Thiamine-Responsive Disorders is a clinical neurogenetic syndrome distinguished by the presence of pathogenic variants in genes involved in thiamine metabolism and transport, wherein neurological manifestations ameliorate significantly following high-dose thiamine supplementation.

245

Publications

9.3K

Citations

1.1K

Authors

439

Institutions

Publications per year

2017–2026

30

Variants

Thiamine-responsive Inborn Errors Of Metabolism

Parents

Publications

245

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Valentina Labay, Tal Raz, Dana Baron et al. · Nature Genetics · 1999 · 275 citations

, , +10

THE NATURAL HISTORY AND PATHOPHYSIOLOGY OF WERNICKE'S ENCEPHALOPATHY AND KORSAKOFF'S PSYCHOSIS

Allan D. Thomson, E. J. Marshall · Alcohol and Alcoholism · 2005 · 244 citations

, , +13

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

Judith C. Fleming, Elena Tartaglini, Mara P. Steinkamp et al. · Nature Genetics · 1999 · 224 citations

, , +12

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

George A. Diaz, Maryam Banikazemi, Kimihiko Oishi et al. · Nature Genetics · 1999 · 204 citations

, , +12

Cloning of the Human Thiamine Transporter, a Member of the Folate Transporter Family

Binita Dutta, Wei Huang, Mariela M. Molero et al. · Journal of Biological Chemistry · 1999 · 199 citations · Full text

, , +12

1–5 of 245

Authors

1.1K

  1. EJ
    Ellis J. Neufeld

    Boston Children's Hospital, United States

    7 publications · 620 citations

    7

    h-index

  2. NC
    Nadine Cohen

    Technion – Israel Institute of Technology, Israel

    7 publications · 765 citations

    7

    h-index

  3. TB
    Timothy Barrett

    University of Birmingham, United Kingdom

    7 publications · 552 citations

    7

    h-index

  4. EN
    Etsuo Naito

    Tokushima University, Japan

    6 publications · 271 citations

    6

    h-index

  5. HM
    Hanna Mandel

    Rambam Health Care Campus, Israel

    6 publications · 611 citations

    6

    h-index

1–5 of 1.1K

Institutions

439

  1. Technion – Israel Institute of Technology

    Haifa, Israel

    9 h-index

    34 publications

    3.6K citations

  2. Harvard University

    Cambridge, United States

    8 h-index

    26 publications

    1.8K citations

  3. University of Pavia

    Pavia, Italy

    7 h-index

    24 publications

    1.2K citations

  4. University of Birmingham

    Birmingham, United Kingdom

    7 h-index

    11 publications

    734 citations

  5. Dana-Farber Cancer Institute

    Boston, United States

    7 h-index

    21 publications

    2K citations

  6. Tokushima University

    Tokushima, Japan

    6 h-index

    32 publications

    1.5K citations

  7. University of California, Irvine

    Irvine, United States

    5 h-index

    14 publications

    572 citations

  8. Sher-i-Kashmir Institute of Medical Sciences

    Srinagar, India

    5 h-index

    9 publications

    367 citations

1–8 of 439

Venues

  1. PubMed

    Repository · 23 publications · 519 citations

    16

    h-index

  2. The Journal of Pediatrics

    6 publications · 328 citations

    6

    h-index

  3. Neurology

    5 publications · 256 citations

    5

    h-index

  4. JAMA

    5 publications · 218 citations

    5

    h-index

  5. European Journal of Pediatrics

    5 publications · 148 citations

    5

    h-index

1–5