Disease: Maple syrup urine disease- type 2
- Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center
- Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
- Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids
- Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
- Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
- Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry
- Insulin Resistance and Impaired Branched-Chain Amino Acid Metabolism in Alzheimer's Disease
- Long-term results of liver transplantation for maple syrup urine disease: A single-center experience in Turkey
- Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile
- Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example
- Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review
- Odimet<sup>®</sup>: 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
- Orthopaedic Problems in 35 Patients With Organic Acid Disorders
- 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
- Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt
- Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition