Visual Abstracts

Submit a Visual Abstract with your manuscript!

An image is worth more than 1000 words! By introducing Visual Abstracts for articles accepted for publication in both JIMD and JIMD Reports, we want to bring your work to a wider audience, summarising key findings and increasing online engagement.

These images can be shared and reproduced via all social media for the benefit of spreading important research and engaging with your patient community. Download the template for authors here or contact our Social Media editor, James Nurse for support on creating your visual abstract.

Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry
Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry
Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy
Nucleotide metabolism, leukodystrophies, and CNS pathology Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
Nucleotide metabolism, leukodystrophies, and CNS pathology Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model Liver-directed gene therapy for inherited metabolic diseases
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model Liver-directed gene therapy for inherited metabolic diseases
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment Biochemical signatures of disease severity in multiple sulfatase deficiency
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment Biochemical signatures of disease severity in multiple sulfatase deficiency
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1 Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo-controlled, double-blind, cross-over study CRISPR/Cas9-based double strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type Ia
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study Gene therapies for mucopolysaccharidoses
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open label, observational pilot study. Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia Validation of a targeted metabolomics panel for improved second-tier newborn screening

Visual Abstracts Archives