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Keith Hyland

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Richard S Gunasekera; Keith Hyland
In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model.
Michael R Pranzatelli; Keith Hyland; Elizabeth D Tate; Lauren A Arnold; Tyler J Allison; Gamini S Soori
Evidence of cellular immune activation in children with opsoclonus-myoclonus: cerebrospinal fluid neopterin.
Rachel Saunders-Pullman; N Blau; Keith Hyland; J Zschocke; TG Nygaard; Deborah Raymond; Vicki Shanker; Kathrin Mohrmann; L Arnold; SD Tabbal; D DeLeon; Blair Ford; Mitchell F Brin; S Chouinard; Laurie J Ozelius; Christine Klein; Susan Bressman
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test.

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All Publications

2009: Richard S Gunasekera; Keith Hyland
In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model.
Molecular genetics and metabolism 2009;98(3):264-72.
2004: Michael R Pranzatelli; Keith Hyland; Elizabeth D Tate; Lauren A Arnold; Tyler J Allison; Gamini S Soori
Evidence of cellular immune activation in children with opsoclonus-myoclonus: cerebrospinal fluid neopterin.
Journal of child neurology 2004;19(12):919-24.
2004: Rachel Saunders-Pullman; N Blau; Keith Hyland; J Zschocke; TG Nygaard; Deborah Raymond; Vicki Shanker; Kathrin Mohrmann; L Arnold; SD Tabbal; D DeLeon; Blair Ford; Mitchell F Brin; S Chouinard; Laurie J Ozelius; Christine Klein; Susan Bressman
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test.
Molecular genetics and metabolism 2004;83(3):207-12.
2004: Birgit Assmann; R O Robinson; Robert Surtees; Christa Bräutigam; Simon J R Heales; Ron A Wevers; Johannes Zschocke; Keith Hyland; R Sharma; Georg F Hoffmann
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.
Neurology 2004;62(10):1872-4.
2004: Yuh Terng Chang; Radhakant Sharma; J Lawrence Marsh; John D McPherson; Joseph A Bedell; Andreas Knust; Christa Bräutigam; Georg F Hoffmann; Keith Hyland
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency.
Annals of neurology 2004;55(3):435-8.
2004: Keith Hyland; Suhail Kasim; Kiyoshi Egami; Lauren A Arnold; Hyder A Jinnah
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
Journal of inherited metabolic disease 2004;27(2):165-78.
2003: Kathryn J Swoboda; J Philip Saul; Catherine E McKenna; Nancy B Speller; Keith Hyland
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes.
Annals of neurology 2003;54 Suppl 6():S49-55.
2003: Keith Hyland; Richard S Gunasekara; Tracy L Munk-Martin; Lauren A Arnold; Todd Engle
The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency.
Annals of neurology 2003;54 Suppl 6():S46-8.
2002: Keith Hyland; Lauren A Arnold
Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures.
Journal of child neurology 2002;17 Suppl 3():3S48-55; discussion 3S56.
2002: Kathryn J Swoboda; Keith Hyland
Diagnosis and treatment of neurotransmitter-related disorders.
Neurologic clinics 2002;20(4):1143-61, viii.
2002: Agata Fiumara; Christa Bräutigam; Keith Hyland; R Sharma; L Lagae; B Stoltenborg; Georg F Hoffmann; Jaak Jaeken; Ron A Wevers
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
Neuropediatrics 2002;33(4):203-8.
2002: Christa Bräutigam; Keith Hyland; Ron A Wevers; R Sharma; L Wagner; G-J Stock; F Heitmann; Georg F Hoffmann
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.
Neuropediatrics 2002;33(3):113-7.
2000: Christa Bräutigam; Ron A Wevers; Keith Hyland; R K Sharma; Andreas Knust; G F Hoffman
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients.
Journal of inherited metabolic disease 2000;23(4):321-4.
2000: Keith Hyland; Blaine L Beaman; Peter LeWitt; AJ DeMaggio
Monoamine changes in the brain of BALB/c mice following sub-lethal infection with Nocardia asteroides (GUH-2).
Neurochemical research 2000;25(4):443-8.
2000: Yoshiaki Furukawa; Mark Guttman; S P Sparagana; JM Trugman; Keith Hyland; P Wyatt; Anthony E Lang; G A Rouleau; M Shimadzu; Stephen J Kish
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
Annals of neurology 2000;47(4):517-20.
1999: Keith Hyland; Lauren A Arnold
Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies.
Journal of child neurology 1999;14 Suppl 1():S9-15.
1999: Kathryn J Swoboda; Keith Hyland; David S Goldstein; K C Kuban; Lauren A Arnold; C S Holmes; Harvey L Levy
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.
Neurology 1999;53(6):1205-11.
1999: Pierre J Blanchet; J Fang; Keith Hyland; Lauren A Arnold; M Maral Mouradian; Thomas N Chase
Short-term effects of high-dose 17beta-estradiol in postmenopausal PD patients: a crossover study.
Neurology 1999;53(1):91-5.
1999: Keith Hyland
Neurochemistry and defects of biogenic amine neurotransmitter metabolism.
Journal of inherited metabolic disease 1999;22(4):353-63.
1999: Nenad Blau; Beat Thöny; A Renneberg; Johann M Penzien; Keith Hyland; Georg F Hoffmann
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
Journal of inherited metabolic disease 1999;22(3):216-20.
1999: Keith Hyland; TG Nygaard; JM Trugman; Kathryn J Swoboda; Lauren A Arnold; S P Sparagana
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
Journal of inherited metabolic disease 1999;22(3):213-5.
1999: Keith Hyland
Presentation, diagnosis, and treatment of the disorders of monoamine neurotransmitter metabolism.
Seminars in perinatology 1999;23(2):194-203.
1998: David A Loeffler; Peter LeWitt; PL Juneau; Dianne M Camp; Lauren A Arnold; Keith Hyland
Time-dependent effects of levodopa on regional brain dopamine metabolism and lipid peroxidation.
Brain research bulletin 1998;47(6):663-7.
1998: Pierre J Blanchet; Spiros Konitsiotis; Keith Hyland; Lauren A Arnold; KD Pettigrew; Thomas N Chase
Chronic exposure to MPTP as a primate model of progressive parkinsonism: a pilot study with a free radical scavenger.
Experimental neurology 1998;153(2):214-22.
1998: Yoshiaki Furukawa; Stephen J Kish; E M Bebin; R D Jacobson; J S Fryburg; W G Wilson; M Shimadzu; Keith Hyland; JM Trugman
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
Annals of neurology 1998;44(1):10-6.
1998: Nenad Blau; Beat Thöny; A Renneberg; Lauren A Arnold; Keith Hyland
Dihydropteridine reductase deficiency localized to the central nervous system.
Journal of inherited metabolic disease 1998;21(4):433-4.
1998: Keith Hyland; Lauren A Arnold; JM Trugman
Defects of biopterin metabolism and biogenic amine biosynthesis: clinical diagnostic, and therapeutic aspects.
Advances in neurology 1998;78():301-8.
1997: Keith Hyland; J S Fryburg; W G Wilson; E M Bebin; Lauren A Arnold; R S Gunasekera; R D Jacobson; E Rost-Ruffner; JM Trugman
Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.
Neurology 1997;48(5):1290-7.
1997: Yuh Terng Chang; Keith Hyland; G Mues; J L Marsh
Human hair follicles as a peripheral source of tyrosine hydroxylase and aromatic L-amino acid decarboxylase mRNA.
Neuroscience letters 1997;222(3):210-2.
1996: Keith Hyland; R S Gunasekera; T Engle; Lauren A Arnold
Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse.
Journal of neurochemistry 1996;67(2):752-9.
1996: Y T Chang; G Mues; Keith Hyland
Alternative splicing in the coding region of human aromatic L-amino acid decarboxylase mRNA.
Neuroscience letters 1996;202(3):157-60.
1996: Y T Chang; G Mues; Mark Pittelkow; Keith Hyland
Cultured human keratinocytes as a peripheral source of mRNA for tyrosine hydroxylase and aromatic L-amino acid decarboxylase.
Journal of inherited metabolic disease 1996;19(2):239-42.