Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 295 publications

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Journal: Genes
Published: July 21, 2025

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.

Journal: Journal of inherited metabolic disease
Published: June 24, 2025

Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent.

Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent.

Journal: Indian pediatrics
Published: June 16, 2025

Combined alkaptonuria and osteoporosis contributing to chronic back pain.

Combined alkaptonuria and osteoporosis contributing to chronic back pain.

Journal: Endocrinology, diabetes & metabolism case reports
Published: June 04, 2025

Killing of Anopheles stephensi mosquitoes by selective triketone inhibitors of 4-hydroxyphenylpyruvate dioxygenase depends on a high protein meal.

Killing of Anopheles stephensi mosquitoes by selective triketone inhibitors of 4-hydroxyphenylpyruvate dioxygenase depends on a high protein meal.

Journal: Insect biochemistry and molecular biology
Published: May 12, 2025

A robust bacterial high-throughput screening assay to identify pharmacological chaperones targeting human homogentisate 1,2-dioxygenase missense variants in alkaptonuria.

A robust bacterial high-throughput screening assay to identify pharmacological chaperones targeting human homogentisate 1,2-dioxygenase missense variants in alkaptonuria.

Journal: European journal of pharmacology
Published: May 07, 2025

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.

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

Validation of Clinical-Grade Electroporation Systems for CRISPR-Cas9-Mediated Gene Therapy in Primary Hepatocytes for the Correction of Inherited Metabolic Liver Disease.

Validation of Clinical-Grade Electroporation Systems for CRISPR-Cas9-Mediated Gene Therapy in Primary Hepatocytes for the Correction of Inherited Metabolic Liver Disease.

Journal: Cells
Published: March 31, 2025

Anopheles mosquito survival and pharmacokinetic modeling show the mosquitocidal activity of nitisinone.

Anopheles mosquito survival and pharmacokinetic modeling show the mosquitocidal activity of nitisinone.

Journal: Science translational medicine
Published: March 26, 2025

The β-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake.

The β-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake.

Journal: Parasites & vectors
Published: March 21, 2025

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.

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

Pharmacovigilance of drug-induced cataract using the FDA Adverse Event Reporting System.

Pharmacovigilance of drug-induced cataract using the FDA Adverse Event Reporting System.

Journal: Scientific reports
Published: February 18, 2025
Showing 1-12 of 295

Last Updated: 10/31/2025