Disease: Inborn amino acid metabolism disorder
- A base editing strategy using mRNA-LNPs for in vivo correction of the most frequent phenylketonuria variant
- A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
- A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients
- A treatable inborn error of metabolism presenting in the sixth decade
- Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
- Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia
- Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation
- Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report
- ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations
- Alkaptonuria
- Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report
- Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic Disorders
- Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database
- Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders
- Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population
- Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology
- Cardiomyopathy, carnitine deficiency, and celiac disease
- Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes
- Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations
- Clinical and genetic analysis of two children with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency
- Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria
- Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
- Clinical features and genetic analysis of three children with β-ketothiolase deficiency
- Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
- Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
- Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns
- Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency
- Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
- Determination of amino acid metabolic diseases from dried blood spots with a rapid extraction method coupled with nanoelectrospray ionization mass spectrometry
- Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five <em>CBS</em> mutations found in Pakistani homocystinuria patients
- Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
- Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
- Dual-emissive europium doped UiO-66-based ratiometric light-up biosensor for highly sensitive detection of histidinemia biomarker
- Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
- Enteral nutrition support for lysinuric protein intolerance: a case report and literature review
- Establishment of Age Specific Reference Interval for Aminoacids and Acylcarnitine in Dried Blood Spot by Tandem Mass Spectrometry
- Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency
- Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
- Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
- Expanding the Frontiers of Guardian Antioxidant Selenoproteins in Cardiovascular Pathophysiology
- Fatal cervical myelopathy in a child with glutaric aciduria type 1
- First successful outcomes of pegvaliase (PALYNZIQ) in children
- Gene therapy for neurotransmitter-related disorders
- Gene therapy takes the fear out of severe AADC deficiency
- Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an Isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene
- Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
- Gyrate atrophy of the choroid and retina: Update on diagnosis and treatment
- How to handle HMG-CoA lyase deficiency and type 1 diabetes? A challenging case report
- Hyperammonemia in the Pediatric Emergency Department
- Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition
- Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics
- Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
- Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances
- Inherited metabolic disorders in Cyprus
- Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review
- Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
- Living-donor liver transplantation for methylmalonic acidemia patient with hepatocellular carcinoma: A case report and literature review
- Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice
- Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena
- Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
- Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient
- Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement
- Neurodegenerative Etiology of Aromatic L-Amino Acid Decarboxylase Deficiency: a Novel Concept for Expanding Treatment Strategies
- New challenges in management of phenylketonuria in pregnancy: a case report
- New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency
- Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations
- Newborn screening in France: news and perspectives
- 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
- 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
- PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration
- Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
- Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report
- Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study
- Pyridoxal 5'-Phosphate Biosynthesis by Pyridox-(am)-ine 5'-Phosphate Oxidase: Species-Specific Features
- Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study
- Relative Oral Bioavailability and Food Effects of Two Sepiapterin Formulations in Healthy Participants
- Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
- Riboflavin-responsive lipid-storage myopathy in elderly patients
- Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in <em>PEPD</em>
- Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
- Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
- Sex-related differences in within-subject biological variation estimates for 22 essential and non-essential amino acids
- Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study
- Struggle for the future health of adolescent patients with phenylketonuria and parents with a sick child due to the economic crisis
- Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria
- Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters
- Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria
- The effect of phenylketonuria on family quality of life
- The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
- The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers
- The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice
- Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences
- Type I Hyperprolinemia - What about the Kidney?
- Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers
- Urea cycle disorders in critically Ill adults
- Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey
- Valproate induced carnitine deficiency and hyperammonaemia
- Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy