Last Updated: 09/26/2026
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Found 16 publications
Exploring human plasma proteomic variations in mucolipidosis type IV.
Journal: Molecular therapy. Methods & clinical development
Published: July 31, 2024
Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database.
Journal: Orphanet journal of rare diseases
Published: March 01, 2024
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
Journal: Journal of inherited metabolic disease
Published: January 05, 2024
Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
Journal: Cells
Published: November 22, 2021
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Journal: Neurology. Genetics
Published: September 10, 2021
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.
Journal: Metabolic brain disease
Published: March 16, 2021
Progress in elucidating pathophysiology of mucolipidosis IV.
Journal: Neuroscience letters
Published: February 26, 2021
Hippocampal sharp wave ripples during invasive monitoring: A physiologic finding.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: February 02, 2021
MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV.
Journal: Human molecular genetics
Published: December 28, 2020
The role of glutamate oxaloacetate transaminases in sulfite biosynthesis and H2S metabolism.
Journal: Redox biology
Published: October 02, 2020
Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency.
Journal: Frontiers in genetics
Published: August 14, 2020
Correction: Big Black Brain Phenomenon: Understanding Clinicoradiological Dissociation in Non-Accidental Traumatic Brain Injury in Children.
Journal: Cureus
Published: May 19, 2020
Last Updated: 09/26/2026