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Derks, Britt
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1

Impact of theta transcranial alternating current stimulatio..:

Derks, Britt ; Kumar, Varsha Shashi ; Yadnik, Sai...
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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2

The hypergonadotropic hypogonadism conundrum of classic gal..:

Derks, Britt ; Rivera-Cruz, Greysha ; Hagen-Lillevik, Synneva...
Human Reproduction Update.  29 (2022)  2 - p. 246-258 , 2022
Link: https://doi.org/10.1093/..
 
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3

Galactose epimerase deficiency: lessons from the GalNet reg..:

Derks, Britt ; Demirbas, Didem ; Arantes, Rodrigo R....
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

Galactokinase deficiency: lessons from the GalNet registry:

Rubio-Gozalbo, M. Estela ; Derks, Britt ; Das, Anibh Martin...
Genetics in Medicine.  23 (2021)  1 - p. 202-210 , 2021
Link: https://doi.org/10.1038/..
 
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5

[13C]‐galactose breath test in a patient with galactokinase..:

Ficicioglu, Can ; Demirbas, Didem ; Derks, Britt...
JIMD Reports.  59 (2021)  1 - p. 104-109 , 2021
Link: https://doi.org/10.1002/..
 
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6

Arginine does not rescue p.Q188R mutation deleterious effec..:

Haskovic, Minela ; Derks, Britt ; van der Ploeg, Liesbeth...
Orphanet Journal of Rare Diseases.  13 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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7

The hypergonadotropic hypogonadism conundrum of classic gal..:

Derks, Britt ; Rivera-Cruz, Greysha ; Hagen-Lillevik, Synneva...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976963/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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8

Galactose epimerase deficiency: lessons from the GalNet reg..:

Derks, Britt ; Demirbas, Didem ; Arantes, Rodrigo R...
https://boris.unibe.ch/172664/.  , 2022
Link: https://boris.unibe.ch/1..
 
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9

Galactokinase deficiency:lessons from the GalNet registry:

Rubio-Gozalbo, M. Estela ; Derks, Britt ; Das, Anibh Martin...
Rubio-Gozalbo , M E , Derks , B , Das , A M , Meyer , U , Moeslinger , D , Couce , M L , Empain , A , Ficicioglu , C , Palacios , N J , De Los Santos De Pelegrin , M M , Rivera , I A , Scholl-Buergi , S , Bosch , A M , Cassiman , D , Demirbas , D , Gautschi , M , Knerr , I , Labrune , P , Skouma , A , Verloo , P , Wortmann , S B , Treacy , E P , Timson , D J & Berry , G T 2021 , ' Galactokinase deficiency : lessons from the GalNet registry ' , Genetics in Medicine , vol. 23 , no. 1 , pp. 202-210 . https://doi.org/10.1038/s41436-020-00942-9.  , 2021
Link: https://cris.maastrichtu..
 
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10

[(13)C]‐galactose breath test in a patient with galactokina..:

Ficicioglu, Can ; Demirbas, Didem ; Derks, Britt...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100398/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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11

[13C]-galactose breath test in a patient with galactokinase..:

Ficicioglu, Can ; Demirbas, Didem ; Derks, Britt...
Ficicioglu , C , Demirbas , D , Derks , B , Pai , G S , Timson , D J , Rubio-Gozalbo , M E & Berry , G T 2021 , ' [13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis ' , JIMD reports , vol. 59 , no. 1 , pp. 104-109 . https://doi.org/10.1002/jmd2.12205.  , 2021
Link: https://cris.maastrichtu..
 
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12

Galactokinase deficiency: lessons from the GalNet registry:

Rubio-Gozalbo, M Estela ; Derks, Britt ; Das, Anibh Martin...
https://boris.unibe.ch/147774/.  , 2021
Link: https://boris.unibe.ch/1..
 
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13

Genetics in Medicine / Galactokinase deficiency: lessons fr..:

Rubio-Gozalbo, Maria Estela ; Derks, Britt ; Meyer, Uta...
vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-88932/128.  , 2021
Link: https://doi.org/10.1038/..
 
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14

Galactokinase deficiency:lessons from the GalNet registry:

Rubio-Gozalbo, M. Estela ; Derks, Britt ; Das, Anibh Martin...
Rubio-Gozalbo , M E , Derks , B , Das , A M , Meyer , U , Möslinger , D , Couce , M L , Empain , A , Ficicioglu , C , Juliá Palacios , N , De Los Santos De Pelegrin , M M , Rivera , I A , Scholl-Bürgi , S , Bosch , A M , Cassiman , D , Demirbas , D , Gautschi , M , Knerr , I , Labrune , P , Skouma , A , Verloo , P , Wortmann , S B , Treacy , E P , Timson , D J & Berry , G T 2020 , ' Galactokinase deficiency : lessons from the GalNet registry ' , Genetics in Medicine , vol. 23 , no. 1 , pp. 202-210 . https://doi.org/10.1038/s41436-020-00942-9.  , 2020
Link: https://research.brighto..
 
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15

Arginine does not rescue p.Q188R mutation deleterious effec..:

Haskovic, Minela ; Derks, Britt ; van der Ploeg, Liesbeth...
Haskovic , M , Derks , B , van der Ploeg , L , Trommelen , J , Nyakayiru , J , van Loon , L J C , Mackinnon , S , Yue , W W , Peake , R W A , Zha , L , Demirbas , D , Qi , W , Huang , X , Berry , G T , Achten , J , Bierau , J , Rubio-Gozalbo , M E & Coelho , A I 2018 , ' Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia ' , Orphanet Journal of Rare Diseases , vol. 13 , 212 . https://doi.org/10.1186/s13023-018-0954-8.  , 2018
Link: https://cris.maastrichtu..
 
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