Bräutigam C - Search Results

1

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA. Bräutigam C, et al. Clin Chem. 1999 Dec;45(12):2073-8. Clin Chem. 1999. PMID: 10585338

2

Biochemical hallmarks of tyrosine hydroxylase deficiency.

Bräutigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, Gabreëls FJ, Hoffmann GF. Bräutigam C, et al. Clin Chem. 1998 Sep;44(9):1897-904. Clin Chem. 1998. PMID: 9732974

3

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. Wevers RA, et al. Among authors: brautigam c. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

4

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA. Hoffmann GF, et al. Among authors: brautigam c. Ann Neurol. 2003;54 Suppl 6:S56-65. doi: 10.1002/ana.10632. Ann Neurol. 2003. PMID: 12891655

5

Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?

Assmann B, Hoffmann GF, Wagner L, Bräutigam C, Seyberth HW, Duran M, Van Kuilenburg AB, Wevers R, Van Gennip AH. Assmann B, et al. Among authors: brautigam c. J Inherit Metab Dis. 1997 Sep;20(5):681-8. doi: 10.1023/a:1005374426168. J Inherit Metab Dis. 1997. PMID: 9323563

6

1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.

Wevers RA, Engelke UF, Moolenaar SH, Bräutigam C, de Jong JG, Duran R, de Abreu RA, van Gennip AH. Wevers RA, et al. Among authors: brautigam c. Clin Chem. 1999 Apr;45(4):539-48. Clin Chem. 1999. PMID: 10102915

7

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

Köhler M, Assmann B, Bräutigam C, Storm W, Marie S, Vincent MF, Van den Berghe G, Simmonds HA, Hoffmann GF. Köhler M, et al. Among authors: brautigam c. Eur J Paediatr Neurol. 1999;3(1):3-6. doi: 10.1053/ejpn.1999.0172. Eur J Paediatr Neurol. 1999. PMID: 10727185

8

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

Dionisi-Vici C, Hoffmann GF, Leuzzi V, Hoffken H, Bräutigam C, Rizzo C, Steebergen-Spanjers GC, Smeitink JA, Wevers RA. Dionisi-Vici C, et al. Among authors: brautigam c. J Pediatr. 2000 Apr;136(4):560-2. doi: 10.1016/s0022-3476(00)90027-1. J Pediatr. 2000. PMID: 10753262 Review.

9

The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.

Bräutigam C, Wevers RA, Hyland K, Sharma RK, Knust A, Hoffman GF. Bräutigam C, et al. J Inherit Metab Dis. 2000 Jun;23(4):321-4. doi: 10.1023/a:1005698223186. J Inherit Metab Dis. 2000. PMID: 10896284 No abstract available.

10

Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.

Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF. Bräutigam C, et al. Neuropediatrics. 2002 Jun;33(3):113-7. doi: 10.1055/s-2002-33673. Neuropediatrics. 2002. PMID: 12200739

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