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megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
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Journal Articles

Thiamine Deprivation Induces Reticulocytopenic Anemia in Slc19A2 Knockout Marrow: Evidence for Cell-Intrinsic Defect.

Maria Claudia Montefusco, PhD, Judith C. Fleming, PhD, Gretchen Chick, Ellis J. Neufeld, MD, PhD
Journal: Blood
Blood (2005) 106 (11): 3604.
https://doi.org/10.1182/blood.V106.11.3604.3604
Published: 2005
Journal Articles

Role of Defective High-Affinity Thiamine Transporter slc19a2 in Marrow from a Mouse Model of Thiamine-Responsive Anemia Syndrome: Evidence for Defective Deoxyribose and Heme Synthesis.

Inderneel Sahai, M. Claudia Montefusco, Judidth C. Fleming, Laszlo Boros, Elena Tartaglini, Gretchen Chick, Ellis J. Neufeld
Journal: Blood
Blood (2005) 106 (11): 516.
https://doi.org/10.1182/blood.V106.11.516.516
Published: 2005
Journal Articles

Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA)

László G. Boros, Mara P. Steinkamp, Judith C. Fleming, Wai-Nang Paul Lee, Marta Cascante, Ellis J. Neufeld
Journal: Blood
Blood (2003) 102 (10): 3556–3561.
https://doi.org/10.1182/blood-2003-05-1537
Published: 2003