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Rutger Meinsma
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1

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phen..:

van Karnebeek, Clara D.M. ; Tarailo-Graovac, Maja ; Leen, René...
Genetics in Medicine.  26 (2024)  6 - p. 101104 , 2024
Link: https://doi.org/10.1016/..
 
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2

β-Ureidopropionase deficiency due to novel and rare UPB1 mu..:

Dobritzsch, Doreen ; Meijer, Judith ; Meinsma, Rutger...
Molecular Genetics and Metabolism.  136 (2022)  3 - p. 177-185 , 2022
Link: https://doi.org/10.1016/..
 
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3

Thrombocytopenia after meta-iodobenzylguanidine (MIBG) ther..:

Blom, Thomas ; Meinsma, Rutger ; di Summa, Franca...
EJNMMI Research.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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4

Selective serotonin reuptake inhibitors (SSRIs) prevent met..:

Blom, Thomas ; Meinsma, Rutger ; Rutgers, Marja...
EJNMMI Research.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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5

Deficiency of perforin and hCNT1, a novel inborn error of p..:

Pérez-Torras, Sandra ; Mata-Ventosa, Aida ; Drögemöller, Britt...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1865 (2019)  6 - p. 1182-1191 , 2019
Link: https://doi.org/10.1016/..
 
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6

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity fo..:

, In: JIMD Reports; JIMD Reports, Volume 45,
van Kuilenburg, André B. P. ; Meijer, Judith ; Meinsma, Rutger... - p. 65-69 , 2018
Link: https://doi.org/10.1007/..
 
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7

Genome sequencing reveals a novel genetic mechanism underly..:

van Kuilenburg, André B.P. ; Tarailo-Graovac, Maja ; Meijer, Judith...
Human Mutation.  39 (2018)  7 - p. 947-953 , 2018
Link: https://doi.org/10.1002/..
 
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8

Dihydropyrimidinase deficiency in four East Asian patients ..:

Nakajima, Yoko ; Meijer, Judith ; Dobritzsch, Doreen...
Molecular Genetics and Metabolism.  122 (2017)  4 - p. 216-222 , 2017
Link: https://doi.org/10.1016/..
 
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9

Severe fluoropyrimidine toxicity due to novel and rare DPYD..:

van Kuilenburg, André B.P. ; Meijer, Judith ; Maurer, Dirk...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1863 (2017)  3 - p. 721-730 , 2017
Link: https://doi.org/10.1016/..
 
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10

Phenotypic and clinical implications of variants in the dih..:

Kuilenburg, André B.P. van ; Meijer, Judith ; Tanck, Michael W.T....
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1862 (2016)  4 - p. 754-762 , 2016
Link: https://doi.org/10.1016/..
 
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11

The pivotal role of uridine-cytidine kinases in pyrimidine ..:

van Kuilenburg, André B.P. ; Meinsma, Rutger
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1862 (2016)  9 - p. 1504-1512 , 2016
Link: https://doi.org/10.1016/..
 
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12

The Cytidine Analog Fluorocyclopentenylcytosine (RX-3117) I..:

Sarkisjan, Dzjemma ; Julsing, Joris R. ; Smid, Kees...
PLOS ONE.  11 (2016)  9 - p. e0162901 , 2016
Link: https://doi.org/10.1371/..
 
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13

Erratum to: Clinical, biochemical and molecular analysis of..:

Nakajima, Yoko ; Meijer, Judith ; Dobritzsch, Doreen...
Journal of Inherited Metabolic Disease.  37 (2014)  6 - p. 1023-1023 , 2014
Link: https://doi.org/10.1007/..
 
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14

Clinical, biochemical and molecular analysis of 13 Japanese..:

Nakajima, Yoko ; Meijer, Judith ; Dobritzsch, Doreen...
Journal of Inherited Metabolic Disease.  37 (2014)  5 - p. 801-812 , 2014
Link: https://doi.org/10.1007/..
 
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15

ß-Ureidopropionase deficiency: Phenotype, genotype and prot..:

van Kuilenburg, André B.P. ; Dobritzsch, Doreen ; Meijer, Judith...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1822 (2012)  7 - p. 1096-1108 , 2012
Link: https://doi.org/10.1016/..
 
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