Literature DB >> 10896285

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

N G Abeling1, C Bräutigam, G F Hoffmann, P G Barth, R A Wevers, J Jaeken, A Fiumara, A Knust, A H van Gennip.   

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Year:  2000        PMID： 10896285     DOI： 10.1023/a:1005650325003

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


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  9 in total

1.  Aromatic amino acid decarboxylase deficiency in twins.

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

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

Authors:  N G Abeling; A H van Gennip; P G Barth; A van Cruchten; M Westra; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

3.  The renal dopamine system.

Authors:  A Aperia; A C Eklöf; U Holtbäck; S Nowicki; M Sundelöf; P Greengard
Journal:  Adv Pharmacol       Date:  1998

4.  Nonneuronal dopamine.

Authors:  P Soares-da-Silva; M A Vieira-Coelho
Journal:  Adv Pharmacol       Date:  1998

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

Authors:  A Maller; K Hyland; S Milstien; I Biaggioni; I J Butler
Journal:  J Child Neurol       Date:  1997-09       Impact factor: 1.987

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

Authors:  G C Korenke; H J Christen; K Hyland; D H Hunneman; F Hanefeld
Journal:  Eur J Paediatr Neurol       Date:  1997       Impact factor: 3.140

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

Authors:  K Hyland; R A Surtees; C Rodeck; P T Clayton
Journal:  Neurology       Date:  1992-10       Impact factor: 9.910

8.  Alternate promoters in the rat aromatic L-amino acid decarboxylase gene for neuronal and nonneuronal expression: an in situ hybridization study.

Authors:  J W Jahng; T C Wessel; T A Houpt; J H Son; T H Joh
Journal:  J Neurochem       Date:  1996-01       Impact factor: 5.372

9.  Renal dopamine excretion in healthy volunteers after oral ingestion of L-dopa.

Authors:  M Barthelmebs; P Mbou; D Stephan; M Grima; J L Imbs
Journal:  Fundam Clin Pharmacol       Date:  1993       Impact factor: 2.748
  9 in total
  5 in total

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

Authors:  C Bräutigam; R A Wevers; K Hyland; R K Sharma; A Knust; G F Hoffman
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

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

Authors:  Tessa Wassenberg; Leo A H Monnens; Ben P B H Geurtz; Ron A Wevers; Marcel M Verbeek; Michèl A A P Willemsen
Journal:  JIMD Rep       Date:  2011-11-02

3.  A kidney-specific genome-scale metabolic network model for analyzing focal segmental glomerulosclerosis.

Authors:  Salma Sohrabi-Jahromi; Sayed-Amir Marashi; Shiva Kalantari
Journal:  Mamm Genome       Date:  2016-02-29       Impact factor: 2.957

Review 4.  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

5.  A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function.

Authors:  Jose Pablo Miramontes-Gonzalez; C Makena Hightower; Kuixing Zhang; Hiroki Kurosaki; Andrew J Schork; Nilima Biswas; Sucheta Vaingankar; Manjula Mahata; Michael S Lipkowitz; Caroline M Nievergelt; Dewleen G Baker; Michael G Ziegler; David León-Jiménez; Rogelio González-Sarmiento; Hiroshi Ichinose; Daniel T O'Connor
Journal:  Sci Rep       Date:  2019-03-25       Impact factor: 4.379
  5 in total

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