Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Author:
Publisher
Wiley
Subject
Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-200X.1993.tb03049.x/fullpdf
Reference17 articles.
1. Diabetes mellitus thiamine-dependent anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity;Abboud;J. Pediatr.,1985
2. Thiamine-responsive anemia in DIDMOAD syndrome;Borgna-Pignatti;J. Pediatr.,1989
3. Wolfram Syndrome: Report of four new cases and a review of literature;Fishman;Diabetes Care,1986
4. Thiamine-responsive megaloblastic anemia;Rogers;J. Pediatr.,1969
5. Thiamine-dependent anemia and thrombocytopenia, insulin-dependent diabetes mellitus and sensorineural deafness: Case report and review;Resskamp;Klin. Padiatr.,1985
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1. Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 ( SLC19A2 ) mutation;Journal of Diabetes;2017-05-29
2. Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency;Seminars in Pediatric Neurology;2016-11
3. Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update;The Journal of Pediatrics;2009-12
4. Thiamine Withdrawal Can Lead to Diabetic Ketoacidosis in Thiamine Responsive Megaloblastic Anemia: Report of Two Siblings;Journal of Pediatric Endocrinology and Metabolism;2008-01
5. Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK);Placenta;2005-01
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