Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. (Q37591499)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

review article

0 references

title

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

amino acid metabolic disorder

9 April 2020

main subject

3 references

24 March 2019

22 April 2019

28 September 2019

1 reference

28 September 2019

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Rafael Artuch

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Mario Mastrangelo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Marcel Verbeek

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

author name string

Tessa Wassenberg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Marta Molero-Luis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Kathrin Jeltsch

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Georg F Hoffmann

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Birgit Assmann

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Angeles Garcia-Cazorla

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Roser Pons

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Toni S Pearson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Vincenco Leuzzi

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Phillip L Pearl

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Wang Tso Lee

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Manju A Kurian

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Simon Heales

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Lisa Flint

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Michèl Willemsen

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Thomas Opladen

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

language of work or name

1 reference

18 January 2017

4 references

24 March 2019

22 April 2019

28 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

9 April 2020

published in

4 references

24 March 2019

22 April 2019

28 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

page(s)

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

9 April 2020

copyright license

3 references

24 March 2019

22 April 2019

on focus list of Wikimedia project

28 September 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13023-016-0522-z

0 references

cites work

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

SAFETY AND TOLERABILITY OF MRI-GUIDED INFUSION OF AAV2-hAADC INTO THE MID-BRAIN OF NON-HUMAN PRIMATE.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Ethics challenges of transition from paediatric to adult health care services for young adults with neurodevelopmental disabilities

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Status dystonicus: a practice guide

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Quality of life among parents of children with phenylketonuria (PKU)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

GRADE guidelines: 3. Rating the quality of evidence

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

GRADE guidelines: 1. Introduction-GRADE evidence profiles and summary of findings tables

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

GRADE guidelines: a new series of articles in the Journal of Clinical Epidemiology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Safety and tolerability of putaminal AADC gene therapy for Parkinson disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Cardiac and noncardiac fibrotic reactions caused by ergot-and nonergot-derived dopamine agonists

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Fibrotic heart-valve reactions to dopamine-agonist treatment in Parkinson's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Anticholinergics for symptomatic management of Parkinson's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Monoamine neurotransmitter disorders--clinical advances and future perspectives.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Aromatic amino Acid decarboxylase deficiency not responding to pyridoxine and bromocriptine therapy: case report and review of response to treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

L-3,4-dihydroxyphenylalanine (levodopa) lowers central nervous system S-adenosylmethionine concentrations in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Validating a rapid, real-time, PCR-based direct mutation detection assay for preimplantation genetic diagnosis.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Gene therapy for aromatic L-amino acid decarboxylase deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Transition to adult care for children with chronic neurological disorders.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

GRADE guidelines: 2. Framing the question and deciding on important outcomes.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Aromatic L-amino acid decarboxylase deficiency in Taiwan

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Unusually mild phenotype of AADC deficiency in 2 siblings.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Combined general and regional anesthetic in a child with aromatic L-amino acid decarboxylase deficiency.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Status dystonicus: the syndrome and its management.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

1 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241937

2 October 2018

https://api.crossref.org/works/10.1186%2FS13023-016-0522-Z

Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13023-016-0522-Z

Take the challenge: strategies to improve support for parents of chronically ill children

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

A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications

1 reference

12 December 2020

Medical treatment of dystonia

1 reference

12 December 2020

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

1 reference

12 December 2020

Aromatic amino acid decarboxylase deficiency in twins

1 reference

12 December 2020

When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center

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

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

Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency

1 reference

12 December 2020

10.1186/S13023-016-0522-Z

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28100251%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

1 reference