Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up (Q43483370)

23 November 2017

Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up (English)

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aromatic L-amino acid decarboxylase deficiency

23 November 2017

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author name string

C Manegold

1

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23 November 2017

G F Hoffmann

2

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23 November 2017

I Degen

3

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23 November 2017

H Ikonomidou

4

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23 November 2017

A Knust

5

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23 November 2017

M W Laass

6

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23 November 2017

M Pritsch

7

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23 November 2017

E Wilichowski

8

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23 November 2017

F Hörster

9

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23 November 2017

language of work or name

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28 January 2009

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Journal of Inherited Metabolic Disease

23 November 2017

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23 November 2017

32

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23 November 2017

371-380

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23 November 2017

3

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https://scigraph.springernature.com/pub.10.1007/s10545-009-1076-1

23 November 2017

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cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-009-1076-1

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-009-1076-1

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-009-1076-1

Unusually mild phenotype of AADC deficiency in 2 siblings.

21 January 2018

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology

1 reference

12 December 2020

Aromatic amino acid decarboxylase deficiency in twins

1 reference

12 December 2020

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

1 reference

12 December 2020

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

1 reference

12 December 2020

Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency

1 reference

12 December 2020

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements

1 reference

12 December 2020

Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency

1 reference

12 December 2020

10.1007/S10545-009-1076-1

Identifiers

DOI

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Dimensions Publication ID

23 November 2017

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1 reference