Literature DB >> 6090807

Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport?

V Poggi, G Longo, B DeVizia, G Andria, G Rindi, C Patrini, E Cassandro.   

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Year:  1984        PMID： 6090807     DOI： 10.1007/978-94-009-5612-4_51

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

1.  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

2.  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

3.  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

4.  Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia.

Authors:  V Poggi; G Rindi; C Patrini; B De Vizia; G Longo; G Andria
Journal:  Eur J Pediatr       Date:  1989-01       Impact factor: 3.183

5.  Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia.

Authors:  G Rindi; D Casirola; V Poggi; B De Vizia; C Patrini; U Laforenza
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

6.  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 7.  Thiamine-responsive inborn errors of metabolism.

Authors:  M Duran; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

8.  Dyserythropoiesis and myelodysplasia in thiamine-responsive megaloblastic anemia syndrome.

Authors:  Mojgan Faraji-Goodarzi; Fariba Tarhani; Nadereh Taee
Journal:  Clin Case Rep       Date:  2020-03-06

9.  Cochlear implant and thiamine-responsive megaloblastic anemia syndrome.

Authors:  Abdulrahman Abdullah Hagr
Journal:  Ann Saudi Med       Date:  2014 Jan-Feb       Impact factor: 1.526
  9 in total

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