Thurm, Audrey

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. [electronic resource] - Journal of developmental and behavioral pediatrics : JDBP 05 2016 - 322-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

1536-7312

10.1097/DBP.0000000000000299 doi


Autism Spectrum Disorder--urine
Brain Diseases, Metabolic, Inborn--physiopathology
Child
Creatine--deficiency
Developmental Disabilities--urine
Humans
Intellectual Disability--urine
Male
Membrane Transport Proteins--urine
X-Linked Intellectual Disability--physiopathology
Nerve Tissue Proteins--genetics
Plasma Membrane Neurotransmitter Transport Proteins--deficiency