Disease: Inborn amino acid metabolism disorder
- A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
- A treatable inborn error of metabolism presenting in the sixth decade
- AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia
- 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
- Alkaptonuria
- Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report
- Amyloid Mimicking Assemblies Formed by Glutamine, Glutamic Acid, and Aspartic Acid
- Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic Disorders
- An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom
- Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database
- Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency
- Bioinformatics in Neonatal/Pediatric Medicine-A Literature Review
- Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
- Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience
- Cardiomyopathy, carnitine deficiency, and celiac disease
- Case for supporting astrocyte energetics in glucose transporter 1 deficiency syndrome
- Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria
- Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I
- Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1
- Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria
- ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
- Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes
- Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study
- Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases
- Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency
- Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
- Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency
- Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia
- Clinical features and genetic analysis of three children with β-ketothiolase deficiency
- Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China
- Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
- Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan
- Closing the gap: An urgent need for newborn screening of organic acid disorders in developing countries
- 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
- Consenso mexicano de tirosinemia tipo 1
- Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
- Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
- Deficient brain GABA metabolism leads to widespread impairments of astrocyte and oligodendrocyte function
- Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency
- Differential utilization of vitamin B(12)-dependent and independent pathways for propionate metabolism across human cells
- Disc-coloration of an ochronotic cervical intervertebral disc in a patient with alkaptonuria: Case report and review of the literature
- Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022
- Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong Kong
- Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
- Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries
- Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency
- Establishment of Age Specific Reference Interval for Aminoacids and Acylcarnitine in Dried Blood Spot by Tandem Mass Spectrometry
- Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias
- Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
- Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease
- First successful outcomes of pegvaliase (PALYNZIQ) in children
- Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency
- Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
- Gene therapy takes the fear out of severe AADC deficiency
- Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls
- 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
- Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH
- Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant
- Gyrate atrophy of the choroid and retina: Update on diagnosis and treatment
- Healthy Plasma Exosomes Exert Potential Neuroprotective Effects against Methylmalonic Acid-Induced Hippocampal Neuron Injury
- Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia
- Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: A neonate receiving liver transplantation
- Hyperornithinemia-hyperammonemia-homocitrullinuria: a rare neurometabolic disorder in two siblings
- Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status
- Identifying Metabolic Diseases That Precipitate Neonatal Seizures
- Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics
- 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 metabolism and pregnancy
- Inborn errors of the malate aspartate shuttle - Update on patients and cellular models
- Inherited metabolic disorders in Cyprus
- Living-donor liver transplantation for methylmalonic acidemia patient with hepatocellular carcinoma: A case report and literature review
- Long-Term Amino Acid Homeostasis, Neurodevelopmental and Growth Profiles Following Liver Transplantation in Maple Syrup Urine Disease
- Long-Term Outcomes of Living Donor Liver Transplantation for Methylmalonic Acidemia
- Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient
- Methylmalonic Acidemia - Matter Most Awaited!
- Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers
- New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency
- Newborn screening in France: news and perspectives
- NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias
- Non-ketotic hyperglycinaemia masquerading as a hypotonic-hyporesponsive episode following vaccination in an infant
- Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
- Pyridoxal 5'-Phosphate Biosynthesis by Pyridox-(am)-ine 5'-Phosphate Oxidase: Species-Specific Features
- Selective Serotonin Reuptake Inhibitor Treatment Post Gene Therapy for an Ultrarare Neurometabolic Disorder (AADC Deficiency)
- 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
- Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency
- Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria
- Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria
- The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
- 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 MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
- The presence of white cell Jordan's anomaly in multiple Acyl-CoA dehydrogenase deficiency: A case report and implications for clinical practice
- TTCT 1471 mutation in lysnuric protein intolerance: Clinical features of a Tunisian paediatric series
- Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers
- Valproate induced carnitine deficiency and hyperammonaemia
- Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report