Mark A. Walterfang
WA, Australia
Last Updated: 09/26/2026
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Found 189 publications
Improved dietary control results in improvements in indices of white matter structure in adults with phenylketonuria: the ReDAPT study.
Journal: Acta neuropsychiatrica
Published: April 17, 2026
NUCOG10: The development and validation of a short form of the NUCOG cognitive assessment tool.
Journal: The Australian and New Zealand journal of psychiatry
Published: January 17, 2026
Distinct contributions of cerebrospinal fluid biomarkers to cognitive impairment and neuropsychiatric symptoms in young-onset dementia.
Journal: Acta neuropsychiatrica
Published: December 23, 2025
An Australian standard of care for Niemann-Pick disease type C.
Journal: Internal medicine journal
Published: November 17, 2025
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.
Journal: Journal of inherited metabolic disease
Published: October 31, 2025
Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease.
Journal: Frontiers in immunology
Published: August 06, 2025
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.
Journal: Neurology
Published: June 13, 2025
A whole-brain structural connectivity signature in adult Niemann-Pick disease type C.
Journal: Brain communications
Published: May 20, 2025
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.
Journal: Frontiers in neurology
Published: April 25, 2025
Blood biomarker profiles in young-onset neurocognitive disorders: A cohort study.
Journal: The Australian and New Zealand journal of psychiatry
Published: January 18, 2025
Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity.
Journal: iScience
Published: November 26, 2024
Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort.
Journal: Journal of neurology
Published: September 21, 2024
Last Updated: 09/26/2026