(Q51984771)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17533144%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Unusually mild phenotype of AADC deficiency in 2 siblings (English)

1 reference

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31 December 2019

1 reference

1 reference

1

1 reference

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31 December 2019

author name string

Poh KS

2

1 reference

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31 December 2019

Hyland K

3

1 reference

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31 December 2019

Pang YW

4

1 reference

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31 December 2019

Ong HT

5

1 reference

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31 December 2019

Low PS

6

1 reference

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31 December 2019

Goh DL

7

1 reference

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31 December 2019

publication date

29 May 2007

1 reference

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Molecular Genetics and Metabolism

31 December 2019

published in

1 reference

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31 December 2019

volume

91

1 reference

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31 December 2019

issue

4

1 reference

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31 December 2019

page(s)

374-378

1 reference

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Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.006

10.1016/J.YMGME.2007.04.006

7 January 2021

Identifiers

DOI

1 reference

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31 December 2019

1 reference