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

Heussinger, Nicole

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. [electronic resource] - Pediatric neurology 02 2017 - 45-52 p. digital

Publication Type: Case Reports; Journal Article

1873-5150

10.1016/j.pediatrneurol.2016.10.007 doi


Adolescent
Atrophy--blood
Brain Diseases, Metabolic, Inborn--blood
Child
Creatine--blood
Female
Genotype
Humans
Intellectual Disability--blood
Male
X-Linked Intellectual Disability--blood
Middle Aged
Mutation, Missense
Nerve Tissue Proteins--genetics
Phenotype
Plasma Membrane Neurotransmitter Transport Proteins--blood
White Matter--diagnostic imaging