Last Updated: 09/26/2026
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Found 42 publications
Multi-modal recruitment efficiency in ScreenPlus, a large-scale consented pilot NBS program.
Journal: medRxiv : the preprint server for health sciences
Published: July 10, 2026
Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.
Journal: International journal of neonatal screening
Published: June 26, 2026
Functional studies in a neonate with a DOCK11 VUS guide clinical care.
Journal: Journal of human immunity
Published: March 27, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.
Journal: Kidney international reports
Published: March 20, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
Journal: JIMD reports
Published: October 07, 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
Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.
Journal: Molecular genetics and metabolism
Published: July 17, 2025
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease.
Journal: Molecular genetics and metabolism
Published: June 12, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.
Journal: Journal of inherited metabolic disease
Published: May 06, 2025
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.
Journal: Frontiers in neurology
Published: April 25, 2025
Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies.
Journal: Journal of inherited metabolic disease
Published: March 30, 2025
Last Updated: 09/26/2026