Last Updated: 09/26/2026
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Found 15 publications
Newborn Screening for Gaucher Disease: The New Jersey Experience.
Journal: International journal of neonatal screening
Published: February 28, 2025
Moya moya vasculopathy and MECP2 duplication syndrome.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: August 08, 2023
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.
Journal: Molecular genetics and metabolism reports
Published: July 01, 2021
The infantile neuroaxonal dystrophy rating scale (INAD-RS).
Journal: Orphanet journal of rare diseases
Published: April 24, 2020
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Journal: American journal of medical genetics. Part A
Published: December 05, 2019
Phenotype delineation of ZNF462 related syndrome.
Journal: American journal of medical genetics. Part A
Published: April 16, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Journal: American journal of human genetics
Published: January 17, 2019
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Journal: Molecular genetics and metabolism
Published: January 11, 2019
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Journal: Journal of medical genetics
Published: December 31, 2016
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 27, 2015
Last Updated: 09/26/2026