Last Updated: 09/26/2026
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Found 105 publications
Lipid profile in pediatric and adult patients with lysosomal acid lipase deficiency treated with sebelipase alfa: longitudinal evidence from the International LAL-D Registry.
Journal: Atherosclerosis
Published: March 27, 2026
Expanding the ABCA2-associated neurodevelopmental phenotype.
Journal: HGG advances
Published: February 19, 2026
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype.
Journal: Molecular genetics and metabolism reports
Published: December 12, 2025
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Journal: HGG advances
Published: November 02, 2025
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
Journal: American journal of medical genetics. Part A
Published: September 29, 2025
Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 11, 2025
Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.
Journal: AJNR. American journal of neuroradiology
Published: June 12, 2025
The PKU Patient Registry: Development of a patient-driven registry and initial outcomes.
Journal: Molecular genetics and metabolism
Published: June 11, 2025
Levacetylleucine (N-acetyl-l-leucine) for Niemann-Pick disease type C.
Journal: Trends in pharmacological sciences
Published: February 07, 2025
Animal models of Kabuki syndrome and their applicability to novel drug discovery.
Journal: Expert opinion on drug discovery
Published: January 25, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
Journal: Human mutation
Published: November 21, 2024
Last Updated: 09/26/2026