Last Updated: 09/26/2026
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Found 41 publications
Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.
Journal: Journal of neurology
Published: April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
Journal: American journal of medical genetics. Part A
Published: February 23, 2026
Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).
Journal: Hormone research in paediatrics
Published: October 14, 2025
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Journal: Orphanet journal of rare diseases
Published: August 07, 2025
Correction: Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
Journal: European journal of human genetics : EJHG
Published: March 11, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Journal: medRxiv : the preprint server for health sciences
Published: February 24, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Journal: American journal of human genetics
Published: February 03, 2025
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3.
Journal: Journal of medical genetics
Published: September 05, 2024
Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
Journal: European journal of human genetics : EJHG
Published: May 22, 2024
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Journal: Molecular genetics and metabolism
Published: December 12, 2022
Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.
Journal: American journal of medical genetics. Part A
Published: March 24, 2022
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Journal: Molecular genetics and metabolism
Published: November 30, 2021
Last Updated: 09/26/2026