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There are 6848 results for: content related to: Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings

  1. First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene—intron 1 mutation c.204+2T>G

    Pediatric Diabetes

    Renata Pomahačová, Jana Zamboryová, Josef Sýkora, Petra Paterová, Karel Fiklík, Tomáš Votava, Zdeňka Černá, Petr Jehlička, Václav Lád, Ivan Šubrt, Jiří Dort and Eva Dortová

    Version of Record online : 22 DEC 2016, DOI: 10.1111/pedi.12479

  2. Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

    Pediatric Diabetes

    Volume 13, Issue 4, June 2012, Pages: 314–321, Charles Shaw-Smith, Sarah E Flanagan, Ann-Marie Patch, Juergen Grulich-Henn, Abdelhadi M Habeb, Khalid Hussain, Renata Pomahacova, Krystyna Matyka, Mohamed Abdullah, Andrew T Hattersley and Sian Ellard

    Version of Record online : 27 FEB 2012, DOI: 10.1111/j.1399-5448.2012.00855.x

  3. Megaloblastic Anemia and Disorders of Cobalamin and Folate Metabolism

    Pediatric Hematology, Third Edition

    Robert J. Arceci, Ian M. Hann, Owen P. Smith, Pages: 105–129, 2007

    Published Online : 4 OCT 2007, DOI: 10.1002/9780470987001.ch6

  4. You have free access to this content
    A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome

    British Journal of Haematology

    Volume 113, Issue 2, May 2001, Pages: 508–513, Sami Gritli, Souheil Omar, Elena Tartaglini, Souha Guannouni, Judith C. Fleming, Mara P. Steinkamp, Charles I. Berul, Raouf Hafsia, Sarrah Baltagi-Ben Jilani, Ali Belhani, Mongi Hamdi and Ellis J. Neufeld

    Version of Record online : 12 JAN 2002, DOI: 10.1046/j.1365-2141.2001.02774.x

  5. CHAPTER 11: Summary to Section II

    Scandinavian Journal of Haematology

    Volume 15, Issue S24, August 1975, Pages: 100–111,

    Version of Record online : 24 APR 2009, DOI: 10.1111/j.1600-0609.1975.tb01108.x

  6. The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families

    Human Mutation

    Volume 16, Issue 1, July 2000, Pages: 37–42, Tal Raz, Valentina Labay, Dana Baron, Raymonde Szargel, Yefim Anbinder, Tim Barrett, Wolfgang Rabl, Marcos B. Viana, Hanna Mandel, Andre Baruchel, Jean-Michel Cayuela and Nadine Cohen

    Version of Record online : 23 JUN 2000, DOI: 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9

  7. TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature

    Pediatric Diabetes

    Volume 3, Issue 4, December 2002, Pages: 205–209, Mehmet Akif Ozdemir, Mustafa Akcakus, Selim Kurtoglu, Tamer Gunes and Yasemin Altuner Torun

    Version of Record online : 19 DEC 2002, DOI: 10.1034/j.1399-5448.2002.30407.x

  8. Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

    American Journal of Medical Genetics Part A

    Volume 125A, Issue 3, 15 March 2004, Pages: 299–305, William H. Lagarde, Louis E. Underwood, Billie M. Moats-Staats and Ali S. Calikoglu

    Version of Record online : 29 SEP 2003, DOI: 10.1002/ajmg.a.20506

  9. Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1605–1609, Violeta Mikstiene, Jurgita Songailiene, Jekaterina Byckova, Giedre Rutkauskiene, Edita Jasinskiene, Rasa Verkauskiene, Eugenijus Lesinskas and Algirdas Utkus

    Version of Record online : 23 FEB 2015, DOI: 10.1002/ajmg.a.37015

  10. Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood

    Pediatric Diabetes

    Volume 8, Issue 4, August 2007, Pages: 239–241, Birthe S Olsen, Johanne MD Hahnemann, Marianne Schwartz and Elsebeth Østergaard

    Version of Record online : 19 JUL 2007, DOI: 10.1111/j.1399-5448.2007.00251.x

  11. Haematological Aspects during Treatment with Anticonvulsant Drugs

    Epilepsia

    Volume 6, Issue 1, March 1965, Pages: 1–15, S. I. DE VRIES

    Version of Record online : 5 NOV 2007, DOI: 10.1111/j.1528-1157.1965.tb03345.x

  12. Thiamine responsive megaloblastic anemia: The puzzling phenotype

    Pediatric Blood & Cancer

    Volume 61, Issue 3, March 2014, Pages: 528–531, Ismail Beshlawi, Shoaib Al Zadjali, Wafa Bashir, Mohamed Elshinawy, Abdulhakim Alrawas and Yasser Wali

    Version of Record online : 19 NOV 2013, DOI: 10.1002/pbc.24849

  13. The diagnosis of megaloblastic anaemia

    Clinical & Laboratory Haematology

    Volume 2, Issue 2, June 1980, Pages: 89–109, T.E. PARRY

    Version of Record online : 16 AUG 2013, DOI: 10.1111/j.1365-2257.1980.tb00813.x

  14. Transcobalamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities

    American Journal of Hematology

    Volume 14, Issue 1, February 1983, Pages: 89–96, Sohail R. Rana, Neville Colman, Kong-Oo Goh, Victor Herbert and Martin R. Klemperer

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajh.2830140111

  15. Megaloblastic Anaemia Associated with Dietary Deficiency and Primidone Therapy in a Child with Cerebral Palsy

    Developmental Medicine & Child Neurology

    Volume 8, Issue 6, December 1966, Pages: 673–676, Gordon Stark

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1966.tb01826.x

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    Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation

    The Journal of Physiology

    Volume 582, Issue 1, July 2007, Pages: 73–85, Veedamali S. Subramanian, Zainab M. Mohammed, Andres Molina, Jonathan S. Marchant, Nosratola D. Vaziri and Hamid M. Said

    Version of Record online : 25 JUN 2007, DOI: 10.1113/jphysiol.2007.128843

  17. Giant Myeloid Cells in the Bone Marrow of Protein Malnourished Infants: Relationship to Folate and Vitamin B12 Nutrition

    British Journal of Haematology

    Volume 12, Issue 6, November 1966, Pages: 737–746, I. Spector and J. Metz

    Version of Record online : 7 JUL 2008, DOI: 10.1111/j.1365-2141.1966.tb00160.x

  18. Observations on the Biochemical Basis of Megaloblastic Anaemia

    British Journal of Haematology

    Volume 23, Issue s1, September 1972, Pages: 109–118, A. V. Hoffbrand and A. H. Waters

    Version of Record online : 12 MAR 2008, DOI: 10.1111/j.1365-2141.1972.tb03511.x

  19. Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families

    Acta Paediatrica

    Volume 95, Issue 1, January 2006, Pages: 99–104, Christopher J. Ricketts, Jayne A. Minton, Jacob Samuel, Indra Ariyawansa, Jerry K. Wales, Ivan F. Lo and Timothy G. Barrett

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2006.tb02188.x

  20. Megaloblastic Anemia and Immune Abnormalities in a Patient with Methionine Synthase Deficiency

    Acta Paediatrica

    Volume 76, Issue 6, November 1987, Pages: 991–998, J. ZITTOUN, A. FISCHER, J. MARQUET, J. L. PERIGNON, A. LAGRUE and C. GRISCELLI

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1651-2227.1987.tb17284.x