Hoffmann GF - Search Results

1

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

2

Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.

Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA. Fiumara A, et al. Among authors: hoffmann gf. Neuropediatrics. 2002 Aug;33(4):203-8. doi: 10.1055/s-2002-34497. Neuropediatrics. 2002. PMID: 12368991

3

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.

Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T. Assmann B, et al. Among authors: hoffmann gf. Neuropediatrics. 2006 Feb;37(1):20-5. doi: 10.1055/s-2006-923933. Neuropediatrics. 2006. PMID: 16541364

4

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Among authors: hoffmann gf. Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Mol Genet Metab. 2019. PMID: 30952622 Review.

5

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

6

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency.

Chang YT, Sharma R, Marsh JL, McPherson JD, Bedell JA, Knust A, Bräutigam C, Hoffmann GF, Hyland K. Chang YT, et al. Among authors: hoffmann gf. Ann Neurol. 2004 Mar;55(3):435-8. doi: 10.1002/ana.20055. Ann Neurol. 2004. PMID: 14991824

7

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

8

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

Kölker S, Hoffmann GF, Schor DS, Feyh P, Wagner L, Jeffrey I, Pourfarzam M, Okun JG, Zschocke J, Baric I, Bain MD, Jakobs C, Chalmers RA. Kölker S, et al. Among authors: hoffmann gf. Neuropediatrics. 2003 Jun;34(5):253-60. doi: 10.1055/s-2003-43261. Neuropediatrics. 2003. PMID: 14598231

9

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

10

Cerebrospinal fluid investigations for neurometabolic disorders.

Hoffmann GF, Surtees RA, Wevers RA. Hoffmann GF, et al. Neuropediatrics. 1998 Apr;29(2):59-71. doi: 10.1055/s-2007-973538. Neuropediatrics. 1998. PMID: 9638660 Review.

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