Baumgartner R - Search Results

1

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.

Mourmans J, Bakkeren J, de Jong J, Wevers R, van Diggelen OP, Suormala T, Baumgartner R, Wendel U. Mourmans J, et al. Among authors: baumgartner r. J Inherit Metab Dis. 1995;18(5):643-5. doi: 10.1007/BF02436014. J Inherit Metab Dis. 1995. PMID: 8598650 No abstract available.

2

Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

Bannwart C, Wermuth B, Baumgartner R, Suormala T, Weismann UN. Bannwart C, et al. Among authors: baumgartner r. J Inherit Metab Dis. 1992;15(6):863-8. doi: 10.1007/BF01800223. J Inherit Metab Dis. 1992. PMID: 1293382

3

Biotinidase deficiency: clinical course and biochemical findings.

Schubiger G, Caflisch U, Baumgartner R, Suormala T, Bachmann C. Schubiger G, et al. Among authors: baumgartner r. J Inherit Metab Dis. 1984;7(3):129-30. doi: 10.1007/BF01801771. J Inherit Metab Dis. 1984. PMID: 6438396 No abstract available.

4

Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.

Baumgartner R, Suormala T, Wick H, Geisert J, Lehnert W. Baumgartner R, et al. Helv Paediatr Acta. 1982;37(5):499-502. Helv Paediatr Acta. 1982. PMID: 6819258 No abstract available.

5

Odd-numbered long-chain fatty acids in propionic acidaemia.

Sperl W, Murr C, Skladal D, Sass JO, Suormala T, Baumgartner R, Wendel U. Sperl W, et al. Among authors: baumgartner r. Eur J Pediatr. 2000 Jan-Feb;159(1-2):54-8. doi: 10.1007/s004310050010. Eur J Pediatr. 2000. PMID: 10653330

6

Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.

Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R. Suormala T, et al. Among authors: baumgartner r. Pediatr Res. 1997 May;41(5):666-73. doi: 10.1203/00006450-199705000-00011. Pediatr Res. 1997. PMID: 9128289

7

Proliferation and differentiation of cultured human follicular keratinocytes are not influenced by biotin.

Limat A, Suormala T, Hunziker T, Waelti ER, Braathen LR, Baumgartner R. Limat A, et al. Among authors: baumgartner r. Arch Dermatol Res. 1996;288(1):31-8. doi: 10.1007/BF02505040. Arch Dermatol Res. 1996. PMID: 8750932

8

[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].

Schweitzer S, Sander J, Suormala T, Baumgartner R, Byrd DJ, Brodehl J. Schweitzer S, et al. Among authors: baumgartner r. Monatsschr Kinderheilkd. 1991 Jun;139(6):349-54. Monatsschr Kinderheilkd. 1991. PMID: 1896047 German.

9

Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism.

Wendel U, Baumgartner R, van der Meer SB, Spaapen LJ. Wendel U, et al. Among authors: baumgartner r. Pediatr Res. 1991 Apr;29(4 Pt 1):403-5. doi: 10.1203/00006450-199104000-00015. Pediatr Res. 1991. PMID: 1852536

10

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

Pomponio RJ, Norrgard KJ, Hymes J, Reynolds TR, Buck GA, Baumgartner R, Suormala T, Wolf B. Pomponio RJ, et al. Among authors: baumgartner r. Hum Genet. 1997 Apr;99(4):506-12. doi: 10.1007/s004390050397. Hum Genet. 1997. PMID: 9099842

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