Suormala T - Search Results

1

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

Sakamoto O, Suzuki Y, Li X, Aoki Y, Hiratsuka M, Suormala T, Baumgartner ER, Gibson KM, Narisawa K. Sakamoto O, et al. Among authors: suormala t. Pediatr Res. 1999 Dec;46(6):671-6. doi: 10.1203/00006450-199912000-00004. Pediatr Res. 1999. PMID: 10590022

2

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

Aoki Y, Li X, Sakamoto O, Hiratsuka M, Akaishi H, Xu L, Briones P, Suormala T, Baumgartner ER, Suzuki Y, Narisawa K. Aoki Y, et al. Among authors: suormala t. Hum Genet. 1999 Feb;104(2):143-8. doi: 10.1007/s004390050927. Hum Genet. 1999. PMID: 10190325

3

Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells.

Baur B, Suormala T, Baumgartner ER. Baur B, et al. Among authors: suormala t. Brain Res. 2002 Jan 25;925(2):111-21. doi: 10.1016/s0006-8993(01)03182-1. Brain Res. 2002. PMID: 11792359

4

Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.

Baumgartner ER, Suormala TM, Wick H, Probst A, Blauenstein U, Bachmann C, Vest M. Baumgartner ER, et al. Among authors: suormala tm. Pediatr Res. 1989 Sep;26(3):260-6. doi: 10.1203/00006450-198909000-00021. Pediatr Res. 1989. PMID: 2587127

5

Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.

Fuchshuber A, Suormala T, Roth B, Duran M, Michalk D, Baumgartner ER. Fuchshuber A, et al. Among authors: suormala t. Eur J Pediatr. 1993 May;152(5):446-9. doi: 10.1007/BF01955908. Eur J Pediatr. 1993. PMID: 8319716

6

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.

Baumgartner ER, Suormala T. Baumgartner ER, et al. Among authors: suormala t. Int J Vitam Nutr Res. 1997;67(5):377-84. Int J Vitam Nutr Res. 1997. PMID: 9350481 Review.

7

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.

Suormala T, Fowler B, Jakobs C, Duran M, Lehnert W, Raab K, Wick H, Baumgartner ER. Suormala T, et al. Eur J Pediatr. 1998 Jul;157(7):570-5. doi: 10.1007/s004310050881. Eur J Pediatr. 1998. PMID: 9686819

8

Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.

Touma E, Suormala T, Baumgartner ER, Gerbaka B, Ogier de Baulny H, Loiselet J. Touma E, et al. Among authors: suormala t. J Inherit Metab Dis. 1999 Apr;22(2):115-22. doi: 10.1023/a:1005485500096. J Inherit Metab Dis. 1999. PMID: 10234606

9

Inherited defects of biotin metabolism.

Baumgartner ER, Suormala T. Baumgartner ER, et al. Among authors: suormala t. Biofactors. 1999;10(2-3):287-90. doi: 10.1002/biof.5520100229. Biofactors. 1999. PMID: 10609895 Review. No abstract available.

10

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

Santer R, Muhle H, Suormala T, Baumgartner ER, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U. Santer R, et al. Among authors: suormala t. Mol Genet Metab. 2003 Jul;79(3):160-6. doi: 10.1016/s1096-7192(03)00091-x. Mol Genet Metab. 2003. PMID: 12855220

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