Hyland K - Search Results

1

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. Among authors: hyland k. 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.

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: hyland k. 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: hyland k. Neuropediatrics. 2002 Aug;33(4):203-8. doi: 10.1055/s-2002-34497. Neuropediatrics. 2002. PMID: 12368991

4

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: hyland k. Neurology. 2004 May 25;62(10):1872-4. doi: 10.1212/01.wnl.0000126440.16612.51. Neurology. 2004. PMID: 15159499

5

Folinic acid responsive seizures: a new syndrome?

Hyland K, Buist NR, Powell BR, Hoffman GF, Rating D, McGrath J, Acworth IN. Hyland K, et al. J Inherit Metab Dis. 1995;18(2):177-81. doi: 10.1007/BF00711760. J Inherit Metab Dis. 1995. PMID: 7564240 No abstract available.

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: hyland k. Ann Neurol. 2004 Mar;55(3):435-8. doi: 10.1002/ana.20055. Ann Neurol. 2004. PMID: 14991824

7

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.

Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC. Pons R, et al. Among authors: hyland k. Neurology. 2004 Apr 13;62(7):1058-65. doi: 10.1212/wnl.62.7.1058. Neurology. 2004. PMID: 15079002 Review.

8

Dihydropteridine reductase deficiency localized to the central nervous system.

Blau N, Thöny B, Renneberg A, Arnold LA, Hyland K. Blau N, et al. Among authors: hyland k. J Inherit Metab Dis. 1998 Jun;21(4):433-4. doi: 10.1023/a:1005327313348. J Inherit Metab Dis. 1998. PMID: 9700606 No abstract available.

9

Aromatic amino acid decarboxylase deficiency in twins.

Hyland K, Clayton PT. Hyland K, et al. J Inherit Metab Dis. 1990;13(3):301-4. doi: 10.1007/BF01799380. J Inherit Metab Dis. 1990. PMID: 1700191 No abstract available.

10

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. van den Heuvel LP, et al. Among authors: hyland k. Hum Genet. 1998 Jun;102(6):644-6. doi: 10.1007/s004390050756. Hum Genet. 1998. PMID: 9703425

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