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Demirbas, Didem
95  Ergebnisse:
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1

ATM-deficiency-induced microglial activation promotes neuro..:

Lai, Jenny ; Demirbas, Didem ; Kim, Junho...
Cell Reports.  43 (2024)  1 - p. 113622 , 2024
Link: https://doi.org/10.1016/..
 
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2

Brain function in classic galactosemia, a galactosemia netw..:

Panis, Bianca ; Vos, E. Naomi ; Barić, Ivo...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

The treatment of biochemical genetic diseases: From substra..:

Vos, E. Naomi ; Demirbas, Didem ; Mangel, Matthew...
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107693 , 2023
Link: https://doi.org/10.1016/..
 
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4

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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5

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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6

A multinational study of acute and long‐term outcomes of Ty..:

Katler, Quinton S. ; Stepien, Karolina M. ; Paull, Nathan...
Journal of Inherited Metabolic Disease.  45 (2022)  6 - p. 1106-1117 , 2022
Link: https://doi.org/10.1002/..
 
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7

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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8

[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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9

Transient developmental delays in infants with Duarte-2 var..:

Waisbren, Susan E. ; Tran, Catherine ; Demirbas, Didem...
Molecular Genetics and Metabolism.  134 (2021)  1-2 - p. 132-138 , 2021
Link: https://doi.org/10.1016/..
 
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10

The re‐occurrence of cardiomyopathy in propionic acidemia a..:

Berry, Gerard T. ; Blume, Elizabeth D. ; Wessel, Ann...
JIMD Reports.  54 (2020)  1 - p. 3-8 , 2020
Link: https://doi.org/10.1002/..
 
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11

List of contributors:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,
Ah Mew, Nicholas ; Akamatsu, Wado ; Akman, Hasan Orhan... - p. xvii-xx , 2020
Link: https://doi.org/10.1016/..
 
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12

Disorders of galactose metabolism:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,
Demirbas, Didem ; Berry, Gerard T. - p. 803-816 , 2020
Link: https://doi.org/10.1016/..
 
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13

A novel null mutation in the pyruvate dehydrogenase phospha..:

Bedoyan, Jirair K. ; Hecht, Leah ; Zhang, Shulin...
JIMD Reports.  48 (2019)  1 - p. 26-35 , 2019
Link: https://doi.org/10.1002/..
 
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14

The ability of an LC-MS/MS-based erythrocyte GALT enzyme as..:

Demirbas, Didem ; Huang, Xiaoping ; Daesety, Vikram...
Molecular Genetics and Metabolism.  126 (2019)  4 - p. 368-376 , 2019
Link: https://doi.org/10.1016/..
 
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15

Phenotypic variability in deficiency of the α subunit of su..:

Demirbas, Didem ; Harris, David J. ; Arn, Pamela H....
JIMD Reports.  46 (2019)  1 - p. 63-69 , 2019
Link: https://doi.org/10.1002/..
 
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