Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 3, 2000, Pages 947-949

  Villa, Valeria ^a   Rivellese, Angela ^a   Di Salle, Francesco ^a   Iovine, Ciro ^a   Poggi, Vincenzo ^b   Capaldo, Brunella ^a,c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Ospedale Pausillipon   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; ANTICONVULSIVE AGENT; ANTIDIABETIC AGENT; CYPROTERONE; ETHINYLESTRADIOL; GLIBENCLAMIDE; INSULIN; THIAMINE;

ACUTE DISEASE; ADULT; BRAIN ISCHEMIA; CASE REPORT; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; CONFERENCE PAPER; DIABETES MELLITUS; EPILEPSY; FEMALE; HUMAN; MEGALOBLASTIC ANEMIA; OVARY POLYCYSTIC DISEASE; PRIORITY JOURNAL; STROKE; THIAMINE DEFICIENCY; VITAMIN DEFICIENCY;

EID: 0034454115     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.85.3.6419     Document Type: Conference Paper

References (13)

1. Thiamin-responsive megaloblastic anemia: A disorder of thiamin transport?
2. Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome
3. Thiamine-responsive megaloblastic anemia
4. Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?
5. Diabetes mellitus, thiamine-dependent megaloblastic anemia and sensorineural deafness associated with deficient α-ketoglutarate dehydrogenase activity
6. Thiamine uptake in human intestinal biopsy specimens, including observations from a patient with acute thiamine deficiency
7. Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamine-responsive megaloblastic anemia
8. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts
9. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping
10. Localization of the Thiamine-responsive megaloblastic anemia locus to a 1.4 cM region of 1q23
11. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia associated with diabetes mellitus and deafness
12. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anemia syndrome
13. The gene mutated in thiamine-responsive anemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter