Hoffmann GF - Search Results

1

Neurotransmitter metabolites in CSF: an external quality control scheme.

Bräutigam C, Weykamp C, Hoffmann GF, Wevers RA. Bräutigam C, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2002 Aug;25(4):287-98. doi: 10.1023/a:1016550324235. J Inherit Metab Dis. 2002. PMID: 12227459

2

Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.

Assmann BE, Robinson RO, Surtees RA, Bräutigam C, Heales SJ, Wevers RA, Zschocke J, Hyland K, Sharma R, Hoffmann GF. Assmann BE, et al. Among authors: hoffmann gf. Neurology. 2004 May 25;62(10):1872-4. doi: 10.1212/01.wnl.0000126440.16612.51. Neurology. 2004. PMID: 15159499

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. Ann Neurol. 2003;54 Suppl 6:S56-65. doi: 10.1002/ana.10632. Ann Neurol. 2003. PMID: 12891655

4

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: hoffmann gf. J Inherit Metab Dis. 2001 Dec;24(7):725-32. doi: 10.1023/a:1012997406132. J Inherit Metab Dis. 2001. PMID: 11804209

5

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. Among authors: hoffmann gf. Neuropediatrics. 2002 Jun;33(3):113-7. doi: 10.1055/s-2002-33673. Neuropediatrics. 2002. PMID: 12200739

6

Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

Wolf NI, Haas D, Hoffmann GF, Jakobs C, Salomons GS, Wevers RA, Engelke UF, Rating D. Wolf NI, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e. J Inherit Metab Dis. 2004. PMID: 15243989

7

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.

8

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: hoffmann gf. J Inherit Metab Dis. 1997 Sep;20(5):681-8. doi: 10.1023/a:1005374426168. J Inherit Metab Dis. 1997. PMID: 9323563

9

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: hoffmann gf. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

10

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: hoffmann gf. 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.

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