Literature DB >> 6472386

Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome".

H Mandel, M Berant, A Hazani, Y Naveh.   

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Year:  1984        PMID： 6472386     DOI： 10.1056/NEJM198409273111307

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  14 in total

1.  Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

Authors:  E J Neufeld; H Mandel; T Raz; R Szargel; C N Yandava; A Stagg; S Fauré; T Barrett; N Buist; N Cohen
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

2.  Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.

Authors:  Prapaporn Jungtrakoon; Jun Shirakawa; Patinut Buranasupkajorn; Manoj K Gupta; Dario F De Jesus; Marcus G Pezzolesi; Aussara Panya; Timothy Hastings; Chutima Chanprasert; Christine Mendonca; Rohit N Kulkarni; Alessandro Doria
Journal:  Diabetes       Date:  2019-03-04       Impact factor: 9.461

Review 3.  Intestinal absorption of water-soluble vitamins in health and disease.

Authors:  Hamid M Said
Journal:  Biochem J       Date:  2011-08-01       Impact factor: 3.857

4.  Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia.

Authors:  G Rindi; C Patrini; U Laforenza; H Mandel; M Berant; M B Viana; V Poggi; A N Zarra
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.

Authors:  C Scharfe; M Hauschild; T Klopstock; A J Janssen; P H Heidemann; T Meitinger; M Jaksch
Journal:  J Med Genet       Date:  2000-09       Impact factor: 6.318

6.  Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts.

Authors:  A R Stagg; J C Fleming; M A Baker; M Sakamoto; N Cohen; E J Neufeld
Journal:  J Clin Invest       Date:  1999-03       Impact factor: 14.808

7.  Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.

Authors:  Virginie Moulin; Francesco Grandoni; Julien Castioni; Henri Lu
Journal:  BMJ Case Rep       Date:  2018-06-14

8.  Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.

Authors:  Lisa Mee; Svetlana M Nabokina; V Thillai Sekar; Veedamali S Subramanian; Kathrin Maedler; Hamid M Said
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2009-05-07       Impact factor: 4.052

9.  Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

Authors:  Anke K Bergmann; Inderneel Sahai; Jill F Falcone; Judy Fleming; Adam Bagg; Caterina Borgna-Pignati; Robin Casey; Luca Fabris; Elizabeth Hexner; Lulu Mathews; Maria Leticia Ribeiro; Klaas J Wierenga; Ellis J Neufeld
Journal:  J Pediatr       Date:  2009-07-29       Impact factor: 4.406

Review 10.  Recent advances in transport of water-soluble vitamins in organs of the digestive system: a focus on the colon and the pancreas.

Authors:  Hamid M Said
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2013-08-29       Impact factor: 4.052
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