(Q52192667)

26 April 2018

title

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. (English)

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26 April 2018

aromatic L-amino acid decarboxylase deficiency

main subject

0 references

author name string

A Maller

1

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26 April 2018

K Hyland

2

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26 April 2018

S Milstien

3

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26 April 2018

I Biaggioni

4

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26 April 2018

I J Butler

5

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26 April 2018

publication date

1 September 1997

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26 April 2018

Journal of Child Neurology

published in

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26 April 2018

volume

12

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issue

6

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page(s)

349-354

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THE STRUCTURE OF THE PHENYLALANINE-HYDROXYLATION COFACTOR

cites work

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200602

Phenylketonuria due to a deficiency of dihydropteridine reductase

21 January 2018

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Abnormalities of biogenic amine metabolism

21 January 2018

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GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

21 January 2018

1 reference

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Biosynthesis of tetrahydrobiopterin. Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liver

21 January 2018

1 reference

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A disorder of biogenic amines in dihydropteridine reductase deficiency

21 January 2018

1 reference

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Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver

21 January 2018

1 reference

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The L-arginine-nitric oxide pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200602

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200602

Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13-->p11 by in situ hybridisation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389701200602

Dopa and 3-O-methyldopa in cerebrospinal fluid of parkinsonism patients during treatment with oral l-dopa

21 January 2018

1 reference

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Genes for human catecholamine-synthesizing enzymes

21 January 2018

1 reference

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Estimation of tetrahydrobiopterin and other pterins in cerebrospinal fluid using reversed-phase high-performance liquid chromatography with electrochemical and fluorescence detection

21 January 2018

1 reference

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10.1177/088307389701200602

21 January 2018

Identifiers

DOI

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26 April 2018

PubMed ID

9309516

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26 April 2018