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