Literature DB >> 9686366

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

N G Abeling1, A H van Gennip, P G Barth, A van Cruchten, M Westra, F A Wijburg.   

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Year:  1998        PMID： 9686366     DOI： 10.1023/a:1005307919767

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Simultaneous determination of acidic 3,4-dihydroxyphenylalanine metabolites and 5-hydroxyindole-3-acetic acid in urine by high-performance liquid chromatography.

Authors:  A E Stroomer; H Overmars; N G Abeling; A H van Gennip
Journal:  Clin Chem       Date:  1990-10       Impact factor: 8.327

2.  Aromatic amino acid decarboxylase deficiency in twins.

Authors:  K Hyland; P T Clayton
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorometric detection.

Authors:  N G Abeling; A H van Gennip; H Overmars; P A Voûte
Journal:  Clin Chim Acta       Date:  1984-02-28       Impact factor: 3.786

4.  Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.

Authors:  K Hyland; P T Clayton
Journal:  Clin Chem       Date:  1992-12       Impact factor: 8.327
  4 in total
  8 in total

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

Authors:  N G Abeling; C Bräutigam; G F Hoffmann; P G Barth; R A Wevers; J Jaeken; A Fiumara; A Knust; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.

Authors:  P DE Lonlay; M C Nassogne; A H van Gennip; A C van Cruchten; T Billatte de Villemeur; M Cretz; C Stoll; J M Launay; G C Steenberger-Spante; L P van den Heuvel; R A Wevers; J M Saudubray; N G Abeling
Journal:  J Inherit Metab Dis       Date:  2000-12       Impact factor: 4.982

3.  Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.

Authors:  Ni-Chung Lee; Yin-Hsiu Chien; Min-Hsiu Hu; Wen-Shin Liu; Pin-Wen Chen; Wei-Hua Wang; Kai-Yuan Tzen; Barry J Byrne; Wuh-Liang Hwu
Journal:  Hum Gene Ther       Date:  2014-01-07       Impact factor: 5.695

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

Authors:  C Manegold; G F Hoffmann; I Degen; H Ikonomidou; A Knust; M W Laass; M Pritsch; E Wilichowski; F Hörster
Journal:  J Inherit Metab Dis       Date:  2009-01-28       Impact factor: 4.982

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

Authors:  Majid Alfadhel; Rana Kattan
Journal:  J Cent Nerv Syst Dis       Date:  2014-01-07

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

Authors:  Kıvılcım Gücüyener; Ciğdem Seher Kasapkara; Leyla Tümer; Marcel M Verbeek
Journal:  Ann Indian Acad Neurol       Date:  2014-04       Impact factor: 1.383

Review 7.  Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Authors:  Tessa Wassenberg; Marta Molero-Luis; Kathrin Jeltsch; Georg F Hoffmann; Birgit Assmann; Nenad Blau; Angeles Garcia-Cazorla; Rafael Artuch; Roser Pons; Toni S Pearson; Vincenco Leuzzi; Mario Mastrangelo; Phillip L Pearl; Wang Tso Lee; Manju A Kurian; Simon Heales; Lisa Flint; Marcel Verbeek; Michèl Willemsen; Thomas Opladen
Journal:  Orphanet J Rare Dis       Date:  2017-01-18       Impact factor: 4.123

Review 8.  Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.

Authors:  Susanna Rizzi; Carlotta Spagnoli; Daniele Frattini; Francesco Pisani; Carlo Fusco
Journal:  Behav Neurol       Date:  2022-10-11       Impact factor: 3.112
  8 in total

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