Last Updated: 09/26/2026
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Found 23 publications
Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.
Journal: Journal of neurology
Published: April 27, 2026
Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity.
Journal: American journal of medical genetics. Part A
Published: December 16, 2025
The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families.
Journal: American journal of medical genetics. Part A
Published: October 31, 2025
Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype.
Journal: JACC. Case reports
Published: June 20, 2025
Indirect bypass for revascularization in Hutchinson-Gilford progeria syndrome: an illustrative case.
Indirect bypass for revascularization in Hutchinson-Gilford progeria syndrome: an illustrative case.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: September 24, 2024
Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients.
Journal: American journal of medical genetics. Part A
Published: June 30, 2024
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.
Journal: Journal of inherited metabolic disease
Published: April 25, 2024
Aminotransferase trends in propionic acidemia.
Journal: American journal of medical genetics. Part A
Published: March 12, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Journal: Molecular genetics and metabolism
Published: February 13, 2024
Management of a urea cycle disorder in the setting of socioeconomic and language barriers.
Journal: Molecular genetics and metabolism reports
Published: January 26, 2024
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.
Journal: Molecular genetics and metabolism
Published: August 07, 2023
Clinical utility of early rapid genome sequencing in the evaluation of patients with differences of sex development.
Journal: American journal of medical genetics. Part A
Published: June 15, 2023
Last Updated: 09/26/2026