• Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
• Acrodermatitis dysmetabolica with concomitant acquired acrodermatitis enteropathica in a patient with maple syrup urine disease
• Acute effects of intracerebroventricular administration of α-ketoisocaproic acid in young rats on inflammatory parameters
• Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis
• Analysis of Branched Amino Acids by UPLC as an Alternative Method for the Management of Patients with MUSD
• Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology
• Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
• Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort
• Changes in branched-chain amino acids in an infant with maple syrup urine disease during perioperative pediatric liver transplant: A case report
• Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype
• Domino liver transplantation for maple syrup urine disease in children: A single-center case series
• Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
• Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy
• Expanding the Donor Pool to the Ultimate Level: Introducing the Revolutionary Hybrid Dual Graft Liver Transplant Using Domino and Living Donors
• Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease
• Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
• Genotypic and Phenotypic Spectrum of maple syrup urine disease in Zhejiang of China
• Identification of gene mutations in six Chinese patients with maple syrup urine disease
• Identifying Metabolic Diseases That Precipitate Neonatal Seizures
• In Vivo Intracerebral Administration of α-Ketoisocaproic Acid to Neonate Rats Disrupts Brain Redox Homeostasis and Promotes Neuronal Death, Glial Reactivity, and Myelination Injury
• Inborn errors of metabolism and pregnancy
• Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023)
• Insulin Resistance and Impaired Branched-Chain Amino Acid Metabolism in Alzheimer's Disease
• Investigation of the effect of vitamin K1 prophylaxis on newborn screenings tests in newborns
• Letter to the Editors: Concerning "Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation" by Guilder et al
• Lipid Nanoparticle mRNA Therapy Improves Survival and Reduces Serum Branched-Chain Amino Acids in Mouse Models of Maple Syrup Urine Disease
• Liver-directed gene therapy for inherited metabolic diseases
• Living Donor-Initiated Domino Split-Liver Transplantation in Pediatric Setup: A Case Report With Literature Review
• Long-Term Amino Acid Homeostasis, Neurodevelopmental and Growth Profiles Following Liver Transplantation in Maple Syrup Urine Disease
• Maple Syrup Urine Disease
• Maple Syrup Urine Disease
• Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures
• Melatonin improves behavioral parameters and oxidative stress in zebrafish submitted to a leucine-induced MSUD protocol
• Memantine Improves Memory and Neurochemical Damage in a Model of Maple Syrup Urine Disease
• Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report
• Newborn screening in France: news and perspectives
• Newborn screening of maple syrup urine disease and the effect of early diagnosis
• Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic
• Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy non-human primates
• Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates
• Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
• Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease
• Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study
• Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years
• Size-Dependent Fullerenes for Enhanced Interaction of l-Leucine: A Combined DFT and MD Simulations Approach
• Space research to explore novel biochemical insights on Earth
• Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report
• Successful treatment of severe MSUD in Bckdhb^-/- mice with neonatal AAV gene therapy
• The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism
• The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD
• The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review
• Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation
• Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
• Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition