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3 in total

1. Dopa and 3-O-methyldopa in cerebrospinal fluid of Parkinsonism patients during treatment with oral L-dopa.

Authors: N S Sharpless; D S McCann
Journal: Clin Chim Acta Date: 1971-01 Impact factor: 3.786

2. Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.

Authors: K Hyland; I Smith; T Bottiglieri; J Perry; U Wendel; P T Clayton; J V Leonard
Journal: Neurology Date: 1988-03 Impact factor: 9.910

3. Direct analysis of tetrahydrobiopterin in cerebrospinal fluid by high-performance liquid chromatography with redox electrochemistry: prevention of autoxidation during storage and analysis.

Authors: D W Howells; K Hyland
Journal: Clin Chim Acta Date: 1987-07-30 Impact factor: 3.786

3 in total

30 in total

1. Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.

Authors: N G Abeling; C Bräutigam; G F Hoffmann; P G Barth; R A Wevers; J Jaeken; A Fiumara; A Knust; A H van Gennip
Journal: J Inherit Metab Dis Date: 2000-06 Impact factor: 4.982

Review 2. Prenatal diagnosis of enzyme defects--an update.

Authors: B Winchester; E Young
Journal: Arch Dis Child Date: 1991-04 Impact factor: 3.791

3. Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.

Authors: N G Abeling; A H van Gennip; P G Barth; A van Cruchten; M Westra; F A Wijburg
Journal: J Inherit Metab Dis Date: 1998-06 Impact factor: 4.982

4. Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.

Authors: Ni-Chung Lee; Shin-Ichi Muramatsu; Yin-Hsiu Chien; Wen-Shin Liu; Wei-Hua Wang; Chia-Hao Cheng; Meng-Kai Hu; Pin-Wen Chen; Kai-Yuan Tzen; Barry J Byrne; Wuh-Liang Hwu
Journal: Mol Ther Date: 2015-07-03 Impact factor: 11.454

5. Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.

Authors: Ni-Chung Lee; Yin-Hsiu Chien; Min-Hsiu Hu; Wen-Shin Liu; Pin-Wen Chen; Wei-Hua Wang; Kai-Yuan Tzen; Barry J Byrne; Wuh-Liang Hwu
Journal: Hum Gene Ther Date: 2014-01-07 Impact factor: 5.695

Aromatic amino acid decarboxylase deficiency in twins.

1. Dopa and 3-O-methyldopa in cerebrospinal fluid of Parkinsonism patients during treatment with oral L-dopa.

2. Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.

3. Direct analysis of tetrahydrobiopterin in cerebrospinal fluid by high-performance liquid chromatography with redox electrochemistry: prevention of autoxidation during storage and analysis.

1. Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency.

Review 2. Prenatal diagnosis of enzyme defects--an update.

3. Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.

4. Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.

5. Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.

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

7. Drug off-target effects predicted using structural analysis in the context of a metabolic network model.

8. Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.

Review 9. Neuroimaging findings in children with paediatric neurotransmitter diseases.

Review 10. Abnormalities of biogenic amine metabolism.