Bräutigam C - Search Results

1

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.

2

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

3

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

4

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

5

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

6

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.

7

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.

8

Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.

Abeling NG, Bräutigam C, Hoffmann GF, Barth PG, Wevers RA, Jaeken J, Fiumara A, Knust A, van Gennip AH. Abeling NG, et al. Among authors: brautigam c. J Inherit Metab Dis. 2000 Jun;23(4):325-8. doi: 10.1023/a:1005650325003. J Inherit Metab Dis. 2000. PMID: 10896285 No abstract available.

9

beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.

Moolenaar SH, Göhlich-Ratmann G, Engelke UF, Spraul M, Humpfer E, Dvortsak P, Voit T, Hoffmann GF, Bräutigam C, van Kuilenburg AB, van Gennip A, Vreken P, Wevers RA. Moolenaar SH, et al. Among authors: brautigam c. Magn Reson Med. 2001 Nov;46(5):1014-7. doi: 10.1002/mrm.1289. Magn Reson Med. 2001. PMID: 11675655 Free article.

10

Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level.

Van Kuilenburg AB, Van Lenthe H, Assmann B, Göhlich-Ratmann G, Hoffmann GF, Bräutigam C, Wevers RA, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: brautigam c. J Inherit Metab Dis. 2001 Dec;24(7):725-32. doi: 10.1023/a:1012997406132. J Inherit Metab Dis. 2001. PMID: 11804209

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