Last Updated: 09/26/2026
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Found 7 publications
Phenotype variability in six new patients with beta-mannosidosis.
Journal: Molecular genetics and metabolism
Published: May 11, 2026
Expanding the Phenotype Spectrum of β-Mannosidosis.
Journal: Neurology. Genetics
Published: February 18, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.
Journal: European journal of human genetics : EJHG
Published: January 22, 2025
Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.
Journal: Scientific reports
Published: August 18, 2023
Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).
Journal: Neuropediatrics
Published: April 11, 2013
MRI findings of bilateral proximal radial physeal injury in a gymnast.
Journal: Pediatric radiology
Published: December 05, 2011
Showing 1-7 of 7
Last Updated: 09/26/2026