| Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency L Brun, LH Ngu, WT Keng, GS Ch'Ng, YS Choy, WL Hwu, WT Lee, ... Neurology 75 (1), 64-71, 2010 | 225 | 2010 |
| Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency T Wassenberg, M Molero-Luis, K Jeltsch, GF Hoffmann, B Assmann, ... Orphanet journal of rare diseases 12, 1-21, 2017 | 211 | 2017 |
| Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies T Opladen, E López-Laso, E Cortès-Saladelafont, TS Pearson, HS Sivri, ... Orphanet journal of rare diseases 15, 1-30, 2020 | 104 | 2020 |
| The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders T Opladen, E Cortès-Saladelafont, M Mastrangelo, G Horvath, R Pons, ... Molecular Genetics and Metabolism Reports 9, 61-66, 2016 | 53 | 2016 |
| Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox T Wassenberg, MAAP Willemsen, PBH Geurtz, M Lammens, K Verrijp, ... Molecular genetics and metabolism 101 (4), 349-356, 2010 | 40 | 2010 |
| l-Dopa in dystonia: A modern perspective RP Maas, T Wassenberg, JP Lin, BPC van de Warrenburg, ... Neurology 88 (19), 1865-1871, 2017 | 39 | 2017 |
| Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines O Kuseyri Hübschmann, G Horvath, E Cortès-Saladelafont, Y Yıldız, ... Nature communications 12 (1), 5529, 2021 | 32 | 2021 |
| Non-motor symptoms and quality of life in dopa-responsive dystonia patients ER Timmers, A Kuiper, M Smit, AL Bartels, DJ Kamphuis, NI Wolf, ... Parkinsonism & Related Disorders 45, 57-62, 2017 | 32 | 2017 |
| Neurodevelopmental outcome in full‐term newborns with refractory neonatal seizures IA Maartens, T Wassenberg, J Buijs, L Bok, MJK de Kleine, T Katgert, ... Acta Paediatrica 101 (4), e173-e178, 2012 | 29 | 2012 |
| Multi-channel amplitude-integrated EEG characteristics in preterm infants with a normal neurodevelopment at two years of corrected age HJ Niemarkt, W Jennekens, IA Maartens, T Wassenberg, M van Aken, ... Early human development 88 (4), 209-216, 2012 | 24 | 2012 |
| Neonatal airway obstruction caused by rapidly growing nasopharyngeal teratoma IA Maartens, T Wassenberg, FJ Halbertsma, HAM Marres, P Andriessen Acta Paediatrica 98 (11), 1852-1854, 2009 | 23 | 2009 |
| CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia A Shetty, Z Gan-Or, S Ashtiani, JA Ruskey, B van de Warrenburg, ... European Journal of Medical Genetics 62 (12), 103605, 2019 | 21 | 2019 |
| The Paradox of Hyperdopaminuria in Aromatic l-Amino Acid Deficiency Explained T Wassenberg, LAH Monnens, BPBH Geurtz, RA Wevers, MM Verbeek, ... JIMD Reports-Case and Research Reports, 2012/1, 39-45, 2012 | 18 | 2012 |
| Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset T Wassenberg, MI Schouten, RC Helmich, MAAP Willemsen, ... Parkinsonism & related disorders 74, 12-15, 2020 | 17 | 2020 |
| Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes N Himmelreich, M Bertoldi, M Alfadhel, MA Alghamdi, Y Anikster, X Bao, ... Molecular genetics and metabolism 139 (3), 107624, 2023 | 13 | 2023 |
| Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency T Wassenberg, J Deinum, FJ van Ittersum, EJ Kamsteeg, M Pennings, ... Journal of inherited metabolic disease 44 (3), 554-565, 2021 | 11 | 2021 |
| International Working Group on Neurotransmitter related Disorders (iNTD). Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies T Opladen, E López-Laso, E Cortès-Saladelafont, TS Pearson, HS Sivri, ... Orphanet J Rare Dis 15 (1), 126, 2020 | 11 | 2020 |
| Consensus recommendations for the clinical management of hematological malignancies in patients with DNA double stranded break disorders A Pastorczak, A Attarbaschi, S Bomken, A Borkhardt, ... Cancers 14 (8), 2000, 2022 | 8 | 2022 |
| Novel protein biomarkers of monoamine metabolism defects correlate with disease severity A Tristán‐Noguero, E Borràs, M Molero‐Luis, T Wassenberg, T Peters, ... Movement Disorders 36 (3), 690-703, 2021 | 8 | 2021 |
| International Working Group on Neurotransmitter related, d. The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused … T Opladen, E Cortes-Saladelafont, M Mastrangelo, G Horvath, R Pons, ... Mol. Genet. Metab. Rep 9, 61-66, 2016 | 6 | 2016 |
