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Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.
Lorber A, Gazit AZ, Khoury A, Schwartz Y, Mandel H. Lorber A, et al. Among authors: mandel h. Pediatr Cardiol. 2003 Sep-Oct;24(5):476-81. doi: 10.1007/s00246-002-0215-3. Pediatr Cardiol. 2003. PMID: 14627317 Review.
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.
Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E. Hershkovitz D, et al. Among authors: mandel h. Arch Dermatol. 2008 Mar;144(3):334-40. doi: 10.1001/archderm.144.3.334. Arch Dermatol. 2008. PMID: 18347289
Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome".
Mandel H, Berant M, Hazani A, Naveh Y. Mandel H, et al. N Engl J Med. 1984 Sep 27;311(13):836-8. doi: 10.1056/NEJM198409273111307. N Engl J Med. 1984. PMID: 6472386 No abstract available.
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N. Neufeld EJ, et al. Among authors: mandel h. Am J Hum Genet. 1997 Dec;61(6):1335-41. doi: 10.1086/301642. Am J Hum Genet. 1997. PMID: 9399900 Free PMC article.
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
Raz T, Labay V, Baron D, Szargel R, Anbinder Y, Barrett T, Rabl W, Viana MB, Mandel H, Baruchel A, Cayuela JM, Cohen N. Raz T, et al. Among authors: mandel h. Hum Mutat. 2000;16(1):37-42. doi: 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10874303
Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia.
Rindi G, Patrini C, Laforenza U, Mandel H, Berant M, Viana MB, Poggi V, Zarra AN. Rindi G, et al. Among authors: mandel h. J Inherit Metab Dis. 1994;17(6):667-77. doi: 10.1007/BF00712009. J Inherit Metab Dis. 1994. PMID: 7707690
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity.
Raz T, Barrett T, Szargel R, Mandel H, Neufeld EJ, Nosaka K, Viana MB, Cohen N. Raz T, et al. Among authors: mandel h. Hum Genet. 1998 Oct;103(4):455-61. doi: 10.1007/s004390050850. Hum Genet. 1998. PMID: 9856490
Thiamine pyrophosphate: an essential cofactor for the alpha-oxidation in mammals--implications for thiamine deficiencies?
Sniekers M, Foulon V, Mannaerts GP, Van Maldergem L, Mandel H, Gelb BD, Casteels M, Van Veldhoven PP. Sniekers M, et al. Among authors: mandel h. Cell Mol Life Sci. 2006 Jul;63(13):1553-63. doi: 10.1007/s00018-005-5603-4. Cell Mol Life Sci. 2006. PMID: 16786225
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E. Mandel H, et al. Am J Hum Genet. 2008 Jan;82(1):39-47. doi: 10.1016/j.ajhg.2007.08.005. Am J Hum Genet. 2008. PMID: 18179883 Free PMC article.
Fludarabine-based protocol for haploidentical peripheral blood stem cell transplantation in Hurler syndrome.
Kapelushnik J, Mandel H, Varadi G, Nagler A. Kapelushnik J, et al. Among authors: mandel h. J Pediatr Hematol Oncol. 2000 Sep-Oct;22(5):433-6. doi: 10.1097/00043426-200009000-00009. J Pediatr Hematol Oncol. 2000. PMID: 11037855
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