Mandel H - Search Results

1

Roels F, Saudubray JM, Giros M, Mandel H, Eyskens F, Saracibar N, Atares Pueyo B, Prats JM, De Prest B, De Preter K, Pineda M, Krystkowiak P, Gootjes J, Wanders RJ, Espeel M, Poll-The BT. Roels F, et al. Among authors: mandel h. Adv Exp Med Biol. 2003;544:97-106. doi: 10.1007/978-1-4419-9072-3_14. Adv Exp Med Biol. 2003. PMID: 14713220 No abstract available.

2

Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.

Gootjes J, Mandel H, Mooijer PA, Roels F, Waterham HR, Wanders RJ. Gootjes J, et al. Among authors: mandel h. Adv Exp Med Biol. 2003;544:107-11. doi: 10.1007/978-1-4419-9072-3_15. Adv Exp Med Biol. 2003. PMID: 14713221 No abstract available.

3

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

Gootjes J, Elpeleg O, Eyskens F, Mandel H, Mitanchez D, Shimozawa N, Suzuki Y, Waterham HR, Wanders RJ. Gootjes J, et al. Among authors: mandel h. Pediatr Res. 2004 Mar;55(3):431-6. doi: 10.1203/01.PDR.0000106862.83469.8D. Epub 2003 Nov 19. Pediatr Res. 2004. PMID: 14630978

4

Peroxisome mosaicism in the livers of peroxisomal deficiency patients.

Espeel M, Mandel H, Poggi F, Smeitink JA, Wanders RJ, Kerckaert I, Schutgens RB, Saudubray JM, Poll-The BT, Roels F. Espeel M, et al. Among authors: mandel h. Hepatology. 1995 Aug;22(2):497-504. Hepatology. 1995. PMID: 7635418

5

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.

Espeel M, Roels F, Giros M, Mandel H, Peltier A, Poggi F, Poll-The BT, Smeitink JA, Van Maldergem L, Santos MJ. Espeel M, et al. Among authors: mandel h. Eur J Cell Biol. 1995 Aug;67(4):319-27. Eur J Cell Biol. 1995. PMID: 8521871

6

Diagnostic work-up of a peroxisomal patient.

Leroy JG, Espeel M, Gadisseux JF, Mandel H, Martinez M, Poll-The BT, Wanders RJ, Roels F. Leroy JG, et al. Among authors: mandel h. J Inherit Metab Dis. 1995;18 Suppl 1:214-22. doi: 10.1007/BF00711440. J Inherit Metab Dis. 1995. PMID: 9053553 Review. No abstract available.

7

Human liver pathology in peroxisomal diseases: a review including novel data.

Roels F, Espeel M, Poggi F, Mandel H, van Maldergem L, Saudubray JM. Roels F, et al. Among authors: mandel h. Biochimie. 1993;75(3-4):281-92. doi: 10.1016/0300-9084(93)90088-a. Biochimie. 1993. PMID: 7685191 Review.

8

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.

Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schütz M, Marquardt T, Smeitink JA, Waterham HR, Wanders RJ. Gootjes J, et al. Among authors: mandel h. Hum Mutat. 2004 Aug;24(2):130-9. doi: 10.1002/humu.20062. Hum Mutat. 2004. PMID: 15241794

9

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.

Frishberg Y, Rinat C, Shalata A, Khatib I, Feinstein S, Becker-Cohen R, Weismann I, Wanders RJ, Rumsby G, Roels F, Mandel H. Frishberg Y, et al. Among authors: mandel h. Am J Nephrol. 2005 May-Jun;25(3):269-75. doi: 10.1159/000086357. Epub 2005 Jun 15. Am J Nephrol. 2005. PMID: 15961946

10

A new type of peroxisomal disorder with variable expression in liver and fibroblasts.

Mandel H, Espeel M, Roels F, Sofer N, Luder A, Iancu TC, Aizin A, Berant M, Wanders RJ, Schutgens RB. Mandel H, et al. J Pediatr. 1994 Oct;125(4):549-55. doi: 10.1016/s0022-3476(94)70006-0. J Pediatr. 1994. PMID: 7931872

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