Maple syrup urine disease: mechanisms and management

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Branched-Chain Amino Acid Metabolism

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Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

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Current status of newborn screening worldwide: 2015

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Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients

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Maple syrup urine disease (branched-chain ketoaciduria)

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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

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Brain Amino Acid Requirements and Toxicity: The Example of Leucine

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Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach

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Classical maple syrup urine disease and brain development: Principles of management and formula design

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Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

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THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE

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Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

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Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

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Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)

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Astrocyte Leucine Metabolism: Significance of Branched‐Chain Amino Acid Transamination

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Impaired growth and neurological abnormalities in branched-chain α-keto acid dehydrogenase kinase-deficient mice

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Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

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Interrelationships of Leucine and Glutamate Metabolism in Cultured Astrocytes

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Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders

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Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)

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Branched-chain ketoacyl dehydrogenase deficiency: Maple syrup disease

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Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

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Branched-Chain Amino Acid Metabolism

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Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)

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CONGENITAL LACTIC ACIDOSIS, α‐KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY

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Dihydrolipoamide dehydrogenase deficiency: A still overlooked cause of recurrent acute liver failure and Reye-like syndrome

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Acute illness in maple syrup urine disease: Dynamics of protein metabolism and implications for management

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Movement disorders in adult surviving patients with maple syrup urine disease

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BCATm deficiency ameliorates endotoxin-induced decrease in muscle protein synthesis and improves survival in septic mice

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Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

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Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

Couce, M. L., Ramos, F. J., Bueno, M. A., Díaz, J. J., Meavilla, S. M., Boveda, M. D., Marmiesse, A. F., & García‐Cazorla, À. (2015) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2015.07.009 · Cited by 40 · see citing works

The adolescent with an inborn error of metabolism: medical issues and transition to adulthood.

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Living related versus deceased donor liver transplantation for maple syrup urine disease

Feier, F. H., Schwartz, I. V. D., Benkert, A. R., Neto, J. S., Miura, I. K., Chapchap, P., da Fonseca, E. A., Vieira, S. M. G., Zanotelli, M. L., Vairo, F. P. E., et al. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2016.01.005 · Cited by 36 · see citing works

Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy

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GENETIC SCREENING: Carriers and Affected Individuals

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Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues

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Cerebral edema in maple syrup urine disease

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Serum Markers of Neurodegeneration in Maple Syrup Urine Disease

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Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases

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Brain–blood amino acid correlates following protein restriction in murine maple syrup urine disease

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Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

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Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino‐acid mixture

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In silico analysis of novel mutations in maple syrup urine disease patients from Iran

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Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation

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Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

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Wernicke‐like encephalopathy during classic maple syrup urine disease decompensation

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Nutrition Management of Maple Syrup Urine Disease

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cDNA Cloning of the E1α Subunit of the Branshed‐Chain α‐Keto Acid Dehydrogenase and Elucidation of a Molecular Basis for Maple Syrup Urine Diseasea

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The multifaceted contributions of mitochondria to cellular metabolism

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Emerging Roles for Branched-Chain Amino Acid Metabolism in Cancer

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Branched-chain amino acids in cardiovascular disease

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Semisynthetic sensor proteins enable metabolic assays at the point of care

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Recent Progress on Branched-Chain Amino Acids in Obesity, Diabetes, and Beyond

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Glutamate sensing in biofluids: recent advances and research challenges of electrochemical sensors

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Practical Application of 3D Printing for Pharmaceuticals in Hospitals and Pharmacies

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Microbiota and Malodor—Etiology and Management

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Applications of Metabolomics to Precision Nutrition

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Amino acid metabolism as a therapeutic target in cancer: a review

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Branched-chain amino acids: physico-chemical properties, industrial synthesis and role in signaling, metabolism and energy production

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Unusual Aggregates Formed by the Self-Assembly of Proline, Hydroxyproline, and Lysine

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Endogenous toxic metabolites and implications in cancer therapy

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Amino acid metabolism and autophagy in skeletal development and homeostasis

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Metabolon formation regulates branched-chain amino acid oxidation and homeostasis

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Impact of pregnancy on inborn errors of metabolism

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A Novel Dietary Intervention Reduces Circulatory Branched-Chain Amino Acids by 50%: A Pilot Study of Relevance for Obesity and Diabetes

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Cross-sectional investigation of insulin resistance in youths with autism spectrum disorder. Any role for reduced brain glucose metabolism?

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Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy

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Potential roles of branched-chain amino acids in neurodegeneration

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Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry

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Interfacing a Personal Glucose Meter with Cell-Free Protein Synthesis for Rapid Analysis of Amino Acids

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Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism

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Unlocking the Potential: Amino Acids’ Role in Predicting and Exploring Therapeutic Avenues for Type 2 Diabetes Mellitus

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Targeted metabolomics

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A Prognostic Model for Colon Adenocarcinoma Patients Based on Ten Amino Acid Metabolism Related Genes

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Acute exposure to leucine modifies behavioral parameters and cholinergic activity in zebrafish

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Liver transplantation for pediatric inherited metabolic liver diseases

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Clues and challenges in the diagnosis of intermittent maple syrup urine disease

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Pediatric metabolic liver diseases: Evolving role of liver transplantation

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Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

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Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review

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Inherited Metabolic Disorders Presenting with Ataxia

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A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease

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Administration of branched‐chain amino acids increases the susceptibility to lipopolysaccharide‐induced inflammation in young Wistar rats

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Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review

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Electrochemical (Bio)Sensing of Maple Syrup Urine Disease Biomarkers Pointing to Early Diagnosis: A Review

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Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

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Administration of branched-chain amino acids alters epigenetic regulatory enzymes in an animal model of Maple Syrup Urine Disease

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The Impact of SLC2A8 RNA Interference on Glucose Uptake and the Transcriptome of Human Trophoblast Cells

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Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

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Case report: maple syrup urine disease with a novel DBT gene mutation

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Mass Spectrometric Interrogation of Earwax: Toward the Detection of Ménière’s Disease

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A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease

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The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease

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Electrochemical sensing of the maple syrup urine disease biomarker valine, using saffron-silver nanoparticles

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Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease

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Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review

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Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease

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