X-linked creatine transporter deficiency (SLC6A8): An underdiagnosed disease in females with intellectual disability

Malene Mejdahl Nielsen; Esben Thade Petersen; Christina Duhring Fenger; Mette Cathrine Orngreen; Hartwig R. Siebner; Vincent Oltman Boer; Michal Povazan; Allan Lund; Sabine Gronborg; Trine Bjorg Hammer

X-linked creatine transporter deficiency (SLC6A8): An underdiagnosed disease in females with intellectual disability

Malene Mejdahl Nielsen
, Esben Thade Petersen
, Christina Duhring Fenger
, Mette Cathrine Orngreen
, Hartwig R. Siebner
, Vincent Oltman Boer
, Michal Povazan
, Allan Lund
, Sabine Gronborg
, Trine Bjorg Hammer

Department of Health Technology

Rigshospitalet
Danish Epilepsy Center
Copenhagen University Hospital Amager and Hvidovre

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

Original language	English
Article number	P07.003.C
Journal	European Journal of Human Genetics
Volume	32
Issue number	Suppl. 1
Pages (from-to)	427-428
ISSN	1018-4813
Publication status	Published - 2024
Event	56^th Annual Conference of the European-Society-of-Human-Genetics : ESHG 2023 - Glasgow, United Kingdom Duration: 10 Jun 2023 → 13 Jun 2023 Conference number: 56

Conference

Conference	56^th Annual Conference of the European-Society-of-Human-Genetics
Number	56
Country/Territory	United Kingdom
City	Glasgow
Period	10/06/2023 → 13/06/2023

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Cite this

@article{13ffe9e825a345c39f0175e0a90faea0,

title = "X-linked creatine transporter deficiency (SLC6A8): An underdiagnosed disease in females with intellectual disability",

author = "Nielsen, \{Malene Mejdahl\} and Petersen, \{Esben Thade\} and Fenger, \{Christina Duhring\} and Orngreen, \{Mette Cathrine\} and Siebner, \{Hartwig R.\} and Boer, \{Vincent Oltman\} and Michal Povazan and Allan Lund and Sabine Gronborg and Hammer, \{Trine Bjorg\}",

year = "2024",

language = "English",

volume = "32",

pages = "427--428",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "Suppl. 1",

note = "56<sup>th</sup> Annual Conference of the European-Society-of-Human-Genetics : ESHG 2023 ; Conference date: 10-06-2023 Through 13-06-2023",

}

X-linked creatine transporter deficiency (SLC6A8): An underdiagnosed disease in females with intellectual disability. / Nielsen, Malene Mejdahl; Petersen, Esben Thade; Fenger, Christina Duhring et al.
In: European Journal of Human Genetics, Vol. 32, No. Suppl. 1, P07.003.C, 2024, p. 427-428.

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

TY - ABST

T1 - X-linked creatine transporter deficiency (SLC6A8): An underdiagnosed disease in females with intellectual disability

AU - Nielsen, Malene Mejdahl

AU - Petersen, Esben Thade

AU - Fenger, Christina Duhring

AU - Orngreen, Mette Cathrine

AU - Siebner, Hartwig R.

AU - Boer, Vincent Oltman

AU - Povazan, Michal

AU - Lund, Allan

AU - Gronborg, Sabine

AU - Hammer, Trine Bjorg

N1 - Conference code: 56

PY - 2024

Y1 - 2024

M3 - Conference abstract in journal

SN - 1018-4813

VL - 32

SP - 427

EP - 428

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 1

M1 - P07.003.C

T2 - 56<sup>th</sup> Annual Conference of the European-Society-of-Human-Genetics

Y2 - 10 June 2023 through 13 June 2023

ER -