Clinical and neuroradiologic spectrum of glutaric acidemia type 1 in children: insights from a retrospective cohort in Guangdong Province, China.

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1.

Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1.

Odd-Chain Dicarboxylic Acid Feeding Produces a Glutaric Aciduria Type 1-Like Metabolic Signature in Mice.

Primary hypoparathyroidism as a seizure trigger in type 1 glutaric aciduria.

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.

Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management.

[Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province].

Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice.

Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy.

Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia.

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails.

Glutaric aciduria type-1 in a teenager with nutritional vitamin B12 deficiency: coexistence of two treatable conditions.

Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1.

[Glutaric aciduria type 1 - a rare treatable neurometabolic disorder of lysine metabolism].

Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review.

Brain morphometric analysis in patients with glutaric aciduria type 1.

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Impairment of neuromotor development and cognition associated with histopathological and neurochemical abnormalities in the cerebral cortex and striatum of glutaryl-CoA dehydrogenase deficient mice.

Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1.

Teaching NeuroImage: An 11-Month-Old Girl With Glutaric Acidemia Type 1.

Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I.

Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH.

Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1.

Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan.

Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.

Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns.

Fatal cervical myelopathy in a child with glutaric aciduria type 1.

Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.

Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.

Glutaric Aciduria Type 1.

Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme.

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.

Update current understanding of neurometabolic disorders related to lysine metabolism.

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.

Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging.

Deep brain stimulation and intrathecal/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review.

Is it time to start to consider treating the liver in glutaric aciduria type 1?

The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.

Rescue of glutaric aciduria type I in mice by liver-directed therapies.

Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I.

Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9.

2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.

Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.

Validation of a targeted metabolomics panel for improved second-tier newborn screening.

How guideline development has informed clinical research for organic acidurias (et vice versa).

Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.

Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1.

Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study.

Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1.

Disturbance of Mitochondrial Dynamics, Endoplasmic Reticulum-Mitochondria Crosstalk, Redox Homeostasis, and Inflammatory Response in the Brain of Glutaryl-CoA Dehydrogenase-Deficient Mice: Neuroprotective Effects of Bezafibrate.

Glutaric Aciduria Type 1: An Atypical Presentation.

A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC-MS for clinical urine organic acids analysis.

Does glutaric aciduria type 1 affect hearing function?

Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.

Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1.

The markers of the organic acidemias and their ratios in healthy neonates in Serbian population.

Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center.

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.

A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.

Increased susceptibility to quinolinic acid-induced seizures and long-term changes in brain oscillations in an animal model of glutaric acidemia type I.

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.

COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1.

Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.

Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I.

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1.

Protective effects of L-carnitine on behavioral alterations and neuroinflammation in striatum of glutaryl-COA dehydrogenase deficient mice.

Orthopaedic Problems in 35 Patients With Organic Acid Disorders.

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report.

Management of COVID-19 infection in organic acidemias.

Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1.

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.

Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.

Audiological and otologic manifestations of glutaric aciduria type I.

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.

Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.

Lipopolysaccharide-Elicited Systemic Inflammation Induces Selective Vulnerability of Cerebral Cortex and Striatum of Developing Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice to Oxidative Stress.

Inherited Disorders of Lysine Metabolism: A Review.

Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.

Metabolic Serendipities of Expanded Newborn Screening.

Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings.

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies.

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.

Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.

Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.

DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient.

Elevated levels of BDNF and cathepsin-d as possible peripheral markers of neurodegeneration in plasma of patients with glutaric acidemia type I.

Riga Fede Disease with Glutaric Aciduria Type 1.

What are the information needs of parents caring for a child with Glutaric aciduria type 1?

[Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ].

Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.

An explanation for metabolite excretion in high- and low-excretor patients with glutaric acidemia type 1.

Urease-immobilized magnetic microparticles in urine sample preparation for metabolomic analysis by gas chromatography-mass spectrometry.

Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?

l-Carnitine prevents oxidative stress in striatum of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload.

Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model.

Acute lysine overload provokes marked striatum injury involving oxidative stress signaling pathways in glutaryl-CoA dehydrogenase deficient mice.

Glutaric Acid Affects Pericyte Contractility and Migration: Possible Implications for GA-I Pathogenesis.

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.

[Clinical phenotype and novel mutation in one of twins with glutaric acidemia type I].

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1.

Ammonium accumulation and chemokine decrease in culture media of Gcdh-/- 3D reaggregated brain cell cultures.

Dyskinesia in a Child: A Concern for a Rare Neuro-Metabolic Disorder.

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Movement Disorders in Treatable Inborn Errors of Metabolism.

[Clinical and variation analysis of three Chinese families affected with glutaric acidemia type 1].

Quantitation of plasma and urine 3-hydroxyglutaric acid, after separation from 2-hydroxyglutaric acid and other compounds of similar ion transition, by liquid chromatography-tandem mass spectrometry for the confirmation of glutaric aciduria type 1.

AEFI Surveillance - The Learning Curve Continues.

Malignant brain tumors in patients with glutaric aciduria type I.

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity.

Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.

Oxidative damage in glutaric aciduria type I patients and the protective effects of l-carnitine treatment.

Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.

Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Science must rise up to support people like me.

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.

Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.

[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].

Organic acidurias in adults: late complications and management.

Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.

Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice.

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

Impairment of astrocytic glutaminolysis in glutaric aciduria type I.

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.

[Effect of glutaryl-CoA dehydrogenase gene silencing and high-concentration lysine on the viability of BRL hepatocytes].

Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.

[Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type Ⅰ].

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.

Microcephaly with generalized dystonia: Exception to the rule.

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.

Reversible brain atrophy in glutaric aciduria type 1.

GAI - distinct genotype and phenotype characteristics in reported Slovak patients.

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I.

Single Lysis-Salting Out Method of Genomic DNA Extraction From Dried Blood Spots.

Severe Acute Subdural Hemorrhages in a Patient with Glutaric Acidemia Type 1 under Recommended Treatment.

Astrocyte Dysfunction in Developmental Neurometabolic Diseases.

Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I.

Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.

Seizures, Dystonia, and Spasms in a 14-Year-Old Child.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].

[Limb torsion and developmental regression for one month after hand, foot and mouth disease in an infant].

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.

Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases.

A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia.

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.

Impact of age at onset and newborn screening on outcome in organic acidurias.

Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology.

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes.

A role of astrocytes in mediating postnatal neurodegeneration in Glutaric acidemia-type 1.

Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias.

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.

Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.

Glutaric aciduria type 1: neuroimaging features with clinical correlation.

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.

Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload.

Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

[Mutation analysis of GCDH gene in four patients with glutaric academia type I].

(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.

Rare presentation of a treatable disorder: glutaric aciduria type 1.

Newborn screening programme expanded.

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.