Literature DB >> 10896284

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

C Bräutigam1, R A Wevers, K Hyland, R K Sharma, A Knust, G F Hoffman.   

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Year:  2000        PMID： 10896284     DOI： 10.1023/a:1005698223186

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


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  5 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.  Elevated plasma levels of homocysteine in Parkinson's disease.

Authors:  W Kuhn; R Roebroek; H Blom; D van Oppenraaij; H Przuntek; A Kretschmer; T Büttner; D Woitalla; T Müller
Journal:  Eur Neurol       Date:  1998-11       Impact factor: 1.710

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

Authors:  R Surtees; K Hyland
Journal:  J Neurol Neurosurg Psychiatry       Date:  1990-07       Impact factor: 10.154

4.  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

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

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

1.  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

Review 2.  Cerebral folate deficiency.

Authors:  Keith Hyland; John Shoffner; Simon J Heales
Journal:  J Inherit Metab Dis       Date:  2010-07-29       Impact factor: 4.982

3.  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

4.  Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

Authors:  M A Spitz; M A Nguyen; S Roche; B Heron; M Milh; P de Lonlay; L Lion-François; H Testard; S Napuri; M Barth; S Fournier-Favre; L Christa; C Vianey-Saban; C Corne; A Roubertie
Journal:  JIMD Rep       Date:  2016-05-05

5.  Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Authors:  Ayse Ergul Bozaci; Esra Er; Havva Yazici; Ebru Canda; Sema Kalkan Uçar; Merve Güvenc Saka; Cenk Eraslan; Hüseyin Onay; Sara Habif; Beat Thöny; Mahmut Coker
Journal:  JIMD Rep       Date:  2021-02-01

Review 6.  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 7.  Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Authors:  Thomas Opladen; Eduardo López-Laso; Elisenda Cortès-Saladelafont; Toni S Pearson; H Serap Sivri; Yilmaz Yildiz; Birgit Assmann; Manju A Kurian; Vincenzo Leuzzi; Simon Heales; Simon Pope; Francesco Porta; Angeles García-Cazorla; Tomáš Honzík; Roser Pons; Luc Regal; Helly Goez; Rafael Artuch; Georg F Hoffmann; Gabriella Horvath; Beat Thöny; Sabine Scholl-Bürgi; Alberto Burlina; Marcel M Verbeek; Mario Mastrangelo; Jennifer Friedman; Tessa Wassenberg; Kathrin Jeltsch; Jan Kulhánek; Oya Kuseyri Hübschmann
Journal:  Orphanet J Rare Dis       Date:  2020-05-26       Impact factor: 4.123

8.  Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.

Authors:  Tessa Wassenberg; Ben P H Geurtz; Leo Monnens; Ron A Wevers; Michèl A Willemsen; Marcel M Verbeek
Journal:  Mol Genet Metab Rep       Date:  2021-04-26

Review 9.  Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.

Authors:  Vincent Th Ramaekers; Edward V Quadros
Journal:  Nutrients       Date:  2022-07-28       Impact factor: 6.706

Review 10.  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
  10 in total

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