Last Updated: 09/26/2026
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Found 33 publications
Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1.
Journal: Molecular genetics and metabolism
Published: September 11, 2025
Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.
Journal: Journal of proteome research
Published: July 09, 2025
Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.
Journal: Journal of child neurology
Published: June 17, 2025
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Journal: Pediatric neurology
Published: November 26, 2024
Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
Journal: American journal of medical genetics. Part A
Published: July 23, 2024
Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model.
Journal: The Journal of clinical investigation
Published: January 18, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Journal: Molecular genetics and metabolism
Published: December 26, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Journal: Molecular genetics and metabolism reports
Published: December 06, 2023
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Journal: European journal of human genetics : EJHG
Published: November 18, 2023
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Journal: American journal of medical genetics. Part A
Published: August 18, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Journal: Molecular genetics and metabolism reports
Published: August 14, 2023
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 08, 2022
Last Updated: 09/26/2026