Hoffmann GF - Search Results

1

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

2

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

3

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

4

Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.

Manegold C, Hoffmann GF, Degen I, Ikonomidou H, Knust A, Laass MW, Pritsch M, Wilichowski E, Hörster F. Manegold C, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2009 Jun;32(3):371-80. doi: 10.1007/s10545-009-1076-1. Epub 2009 Jan 28. J Inherit Metab Dis. 2009. PMID: 19172410

5

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N. Friedman J, et al. Among authors: hoffmann gf. Ann Neurol. 2012 Apr;71(4):520-30. doi: 10.1002/ana.22685. Ann Neurol. 2012. PMID: 22522443

6

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.

7

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.

8

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

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

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. Among authors: hoffmann gf. Clin Chem. 1998 Sep;44(9):1897-904. Clin Chem. 1998. PMID: 9732974

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

599 results

Search Page