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Last Updated: 10/31/2025
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Found 1397 publications
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
Maple syrup urine disease decompensation - rare but life-threatening
Journal: Praxis
Published: June 17, 2025
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.
Journal: Therapeutics and clinical risk management
Published: May 02, 2025
From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care.
Journal: Pediatric neurology
Published: April 17, 2025
Nodular Regenerative Hyperplasia Is a Frequent Finding in Explanted Livers of Patients With Maple Syrup Urine Disease.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: April 17, 2025
Advancing the Biochemical Understanding of Maple Syrup Urine Disease and the Impact of Liver Transplantation: A Pilot Study.
Journal: Journal of proteome research
Published: April 15, 2025
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.
Journal: Molecular genetics and metabolism reports
Published: April 14, 2025
HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease.
Journal: JIMD reports
Published: April 05, 2025
Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).
Acute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).
Journal: BMJ case reports
Published: March 25, 2025
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.
Journal: Science translational medicine
Published: February 26, 2025
Are protein substitutes available in Italy for infants with inherited metabolic diseases all the same?
Journal: Frontiers in nutrition
Published: February 21, 2025
Last Updated: 10/31/2025