Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation (Q41878437)

13 October 2017

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Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation (English)

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aromatic L-amino acid decarboxylase deficiency

13 October 2017

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author

Marcel Verbeek

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25024584%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Kıvılcım Gücüyener

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25024584%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ciğdem Seher Kasapkara

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25024584%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Leyla Tümer

3

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12 June 2020

publication date

1 April 2014

1 reference

Annals of Indian Academy of Neurology

13 October 2017

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12 June 2020

volume

17

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12 June 2020

page(s)

234-236

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12 June 2020

issue

2

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

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090859

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090859

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090859

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090859

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090859

Visualisation of impaired dopamine biosynthesis in a case of aromatic L-amino acid decarboxylase deficiency by co-registered 18F-FDOPA PET and magnetic resonance imaging

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090859

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090859

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4090859

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

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25024584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25024584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.4103/0972-2327.132652

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25024584%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25024584%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference