Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM

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DOI: 10.1056/nejmoa1806627
Published: 2019 Apr 11
Container: The New England journal of medicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1056/nejmoa1806627,
  title = {Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.},
  author = {van Kuilenburg ABP and Tarailo-Graovac M and Richmond PA and Drögemöller BI and Pouladi MA and Leen R and Brand-Arzamendi K and Dobritzsch D and Dolzhenko E and Eberle MA and Hayward B and Jones MJ and Karbassi F and Kobor MS and Koster J and Kumari D and Li M and MacIsaac J and McDonald C and Meijer J and Nguyen C and Rajan-Babu IS and Scherer SW and Sim B and Trost B and Tseng LA and Turkenburg M and van Vugt JJFA and Veldink JH and Walia JS and Wang Y and van Weeghel M and Wright GEB and Xu X and Yuen RKC and Zhang J and Ross CJ and Wasserman WW and Geraghty MT and Santra S and Wanders RJA and Wen XY and Waterham HR and Usdin K and van Karnebeek CDM},
  year = {2019},
  journal = {The New England journal of medicine},
  doi = {10.1056/nejmoa1806627},
  url = {https://doi.org/10.1056/nejmoa1806627}
}

RIS

TY  - JOUR
TI  - Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
AU  - van Kuilenburg ABP
AU  - Tarailo-Graovac M
AU  - Richmond PA
AU  - Drögemöller BI
AU  - Pouladi MA
AU  - Leen R
AU  - Brand-Arzamendi K
AU  - Dobritzsch D
AU  - Dolzhenko E
AU  - Eberle MA
AU  - Hayward B
AU  - Jones MJ
AU  - Karbassi F
AU  - Kobor MS
AU  - Koster J
AU  - Kumari D
AU  - Li M
AU  - MacIsaac J
AU  - McDonald C
AU  - Meijer J
AU  - Nguyen C
AU  - Rajan-Babu IS
AU  - Scherer SW
AU  - Sim B
AU  - Trost B
AU  - Tseng LA
AU  - Turkenburg M
AU  - van Vugt JJFA
AU  - Veldink JH
AU  - Walia JS
AU  - Wang Y
AU  - van Weeghel M
AU  - Wright GEB
AU  - Xu X
AU  - Yuen RKC
AU  - Zhang J
AU  - Ross CJ
AU  - Wasserman WW
AU  - Geraghty MT
AU  - Santra S
AU  - Wanders RJA
AU  - Wen XY
AU  - Waterham HR
AU  - Usdin K
AU  - van Karnebeek CDM
PY  - 2019
JO  - The New England journal of medicine
DO  - 10.1056/nejmoa1806627
UR  - https://doi.org/10.1056/nejmoa1806627
ER  -

APA

ABP, V. K., M, T., PA, R., BI, D., MA, P., R, L., K, B., D, D., E, D., MA, E., B, H., MJ, J., F, K., MS, K., J, K., D, K., M, L., J, M., C, M., J, M., C, N., IS, R., SW, S., B, S., B, T., LA, T., M, T., JJFA, V. V., JH, V., JS, W., Y, W., M, V. W., GEB, W., X, X., RKC, Y., J, Z., CJ, R., WW, W., MT, G., S, S., RJA, W., XY, W., HR, W., K, U., & CDM, V. K. (2019). Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.. The New England journal of medicine. https://doi.org/10.1056/nejmoa1806627

Source records

pubmed · retrieved 2026-09-25T08:32:20.943Z