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