Last Updated: 09/26/2026
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Found 16 publications
Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies.
Journal: Kidney international reports
Published: November 18, 2025
CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports.
CaseReportBench: An LLM Benchmark Dataset for Dense Information Extraction in Clinical Case Reports.
Journal: Proceedings of machine learning research
Published: October 01, 2025
Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria.
Journal: Molecular genetics and metabolism
Published: August 05, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.
Journal: medRxiv : the preprint server for health sciences
Published: March 31, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.
Journal: Journal of inherited metabolic disease
Published: March 11, 2025
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.
Journal: Journal of inherited metabolic disease
Published: December 23, 2024
Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms.
Journal: Molecular genetics and metabolism
Published: July 20, 2024
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.
Journal: Journal of inherited metabolic disease
Published: June 09, 2024
Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial.
Journal: Molecular genetics and metabolism
Published: June 06, 2024
ATP1A1 -linked diseases require a malfunctioning protein product from one allele.
Journal: bioRxiv : the preprint server for biology
Published: April 24, 2023
ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Journal: Biochimica et biophysica acta. Molecular cell research
Published: February 28, 2023
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 16, 2020
Last Updated: 09/26/2026