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Last Updated: 01/07/2026

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Found 1405 publications

Inflammation in maple syrup urine disease.

Inflammation in maple syrup urine disease.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: October 29, 2025

Two Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus.

Two Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus.

Journal: Journal of clinical research in pediatric endocrinology
Published: August 21, 2025

A risk-based, QTPP-driven framework for semi-solid extrusion 3d printing of personalized medicines: Integrating hospital compounding and clinical trial regulation.

A risk-based, QTPP-driven framework for semi-solid extrusion 3d printing of personalized medicines: Integrating hospital compounding and clinical trial regulation.

Journal: European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences
Published: August 14, 2025

A colorimetric strategy for quantifying amino acids using E. coli auxotrophs displaying gold-binding proteins.

A colorimetric strategy for quantifying amino acids using E. coli auxotrophs displaying gold-binding proteins.

Journal: Biosensors & bioelectronics
Published: August 06, 2025

Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression.

Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression.

Journal: Metabolites
Published: August 03, 2025

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.

Journal: Orphanet journal of rare diseases
Published: July 17, 2025

Maple syrup urine disease decompensation - rare but life-threatening

Maple syrup urine disease decompensation - rare but life-threatening

Journal: Praxis
Published: June 17, 2025

Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.

Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.

Journal: Molecular biology reports
Published: June 13, 2025

Design and pharmacodynamic study of live biotherapeutic products with efficient degradation of branched-chain amino acids.

Design and pharmacodynamic study of live biotherapeutic products with efficient degradation of branched-chain amino acids.

Journal: Bioengineering & translational medicine
Published: June 04, 2025

Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.

Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.

Journal: Stem cell research & therapy
Published: May 14, 2025

Transplant Without Borders: Clinical Outcomes and Challenges in Transborder Living Donor Pediatric Liver Transplantation in Jordan.

Transplant Without Borders: Clinical Outcomes and Challenges in Transborder Living Donor Pediatric Liver Transplantation in Jordan.

Journal: Therapeutics and clinical risk management
Published: May 02, 2025

From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care.

From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care.

Journal: Pediatric neurology
Published: April 17, 2025
Showing 1-12 of 1,405

Last Updated: 01/07/2026