Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

Nicole Heussinger; Marc Saake; Angelika Mennecke; Helmuth-Günther Dörr; Regina Trollmann

doi:10.1016/j.pediatrneurol.2016.10.007

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

Nicole Heussinger^* (First author), Marc Saake, Angelika Mennecke, Helmuth-Günther Dörr, Regina Trollmann

^*Corresponding author for this work

Research output: Contribution to journal › Original Article (Journal) › peer-review

7 Citations (Web of Science)

Original language	English
Pages (from-to)	4-52
Journal	PEDIATRIC NEUROLOGY
Volume	67
DOIs	https://doi.org/10.1016/j.pediatrneurol.2016.10.007
Publication status	Published - 2017

Keywords

INBORN-ERRORS
GENE SLC6A8
CHILDREN
BRAIN
DEFECT
INACTIVATION
ADOLESCENTS
METABOLISM
EPILEPSY
LANGUAGE

Access to Document

10.1016/j.pediatrneurol.2016.10.007

Cite this

Heussinger, N., Saake, M., Mennecke, A., Dörr, H.-G., & Trollmann, R. (2017). Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. PEDIATRIC NEUROLOGY , 67, 4-52. https://doi.org/10.1016/j.pediatrneurol.2016.10.007

Heussinger, Nicole ; Saake, Marc ; Mennecke, Angelika et al. / Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. In: PEDIATRIC NEUROLOGY 2017 ; Vol. 67. pp. 4-52.

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title = "Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.",

keywords = "INBORN-ERRORS, GENE SLC6A8, CHILDREN, BRAIN, DEFECT, INACTIVATION, ADOLESCENTS, METABOLISM, EPILEPSY, LANGUAGE",

author = "Nicole Heussinger and Marc Saake and Angelika Mennecke and Helmuth-G{\"u}nther D{\"o}rr and Regina Trollmann",

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doi = "10.1016/j.pediatrneurol.2016.10.007",

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Heussinger, N, Saake, M, Mennecke, A, Dörr, H-G & Trollmann, R 2017, 'Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.', PEDIATRIC NEUROLOGY , vol. 67, pp. 4-52. https://doi.org/10.1016/j.pediatrneurol.2016.10.007

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. / Heussinger, Nicole (First author); Saake, Marc; Mennecke, Angelika et al.
In: PEDIATRIC NEUROLOGY , Vol. 67, 2017, p. 4-52.

Research output: Contribution to journal › Original Article (Journal) › peer-review

TY - JOUR

T1 - Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

AU - Heussinger, Nicole

AU - Saake, Marc

AU - Mennecke, Angelika

AU - Dörr, Helmuth-Günther

AU - Trollmann, Regina

PY - 2017

Y1 - 2017

KW - INBORN-ERRORS

KW - GENE SLC6A8

KW - CHILDREN

KW - BRAIN

KW - DEFECT

KW - INACTIVATION

KW - ADOLESCENTS

KW - METABOLISM

KW - EPILEPSY

KW - LANGUAGE

U2 - 10.1016/j.pediatrneurol.2016.10.007

DO - 10.1016/j.pediatrneurol.2016.10.007

M3 - Original Article (Journal)

C2 - 28065824

SN - 0887-8994

VL - 67

SP - 4

EP - 52

JO - PEDIATRIC NEUROLOGY

JF - PEDIATRIC NEUROLOGY

ER -

Heussinger N, Saake M, Mennecke A, Dörr HG, Trollmann R. Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. PEDIATRIC NEUROLOGY . 2017;67:4-52. doi: 10.1016/j.pediatrneurol.2016.10.007