Christina G Tise Melinda J Palma Kristina P Cusmano-Ozog Dena R Matalon
10.1177/23247096231154438
J Investig Med High Impact Case Rep
2023 Jan-Dec;11:23247096231154438.
case report creatine transporter deficiency developmental delay failure to thrive intellectual disability neurodevelopmental disorder newborn screening
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/36752093/
Brain Diseases, Metabolic, Inborn / diagnosis Brain Diseases, Metabolic, Inborn / genetics Brain Diseases, Metabolic, Inborn / pathology Intellectual Disability / genetics
Brain Diseases, Metabolic, Inborn / diagnosis Brain Diseases, Metabolic, Inborn / genetics Brain Diseases, Metabolic, Inborn / pathology Intellectual Disability / genetics Case Reports Creatine / genetics Creatine / metabolism Creatinine Failure to Thrive Humans Infant Male Nerve Tissue Proteins / metabolism Plasma Membrane Neurotransmitter Transport Proteins Creatine Creatinine Nerve Tissue Proteins Plasma Membrane Neurotransmitter Transport Proteins SLC6A8 protein, human Creatine deficiency, X-linked
PMC9909053
36752093
Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
2023