Unusually mild phenotype of AADC deficiency in 2 siblings. (Q51984771)

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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

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Goh DL

7

1 reference

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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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volume

91

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issue

4

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31 December 2019

page(s)

374-378

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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

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

7 January 2021

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

7 January 2021

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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

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Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

7 January 2021

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

7 January 2021

1 reference

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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

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

7 January 2021

1 reference

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

7 January 2021

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

7 January 2021

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10.1016/J.YMGME.2007.04.006

7 January 2021

Identifiers

DOI

1 reference

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31 December 2019

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