Daniela Karall

ASL mRNA-LNP Therapeutic for the Treatment of Argininosuccinic Aciduria Enables Survival Benefit in a Mouse Model

Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism

The International Scientific Association of Probiotics and Prebiotics (ISAPP) consensus statement on the definition and scope of postbiotics

The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment

Early skin-to-skin contact for mothers and their healthy newborn infants

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

The International Scientific Association for Probiotics and Prebiotics (ISAPP) consensus statement on the definition and scope of synbiotics

The NLRP3 inflammasome: molecular activation and regulation to therapeutics

Ageing as a risk factor for neurodegenerative disease

SCHEMA-Designed Variants of Human Arginase I and II Reveal Sequence Elements Important to Stability and Catalysis

Role of Cardiolipin in Mitochondrial Signaling Pathways

Mitochondria: In Sickness and in Health

Biological roles of glycans

Immunopathology of multiple sclerosis

Glycogen metabolism in humans

Haemolytic uraemic syndrome

Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

Ferroptosis: mechanisms, biology and role in disease

What is new in CDG?

Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue

Making heads or tails of phospholipids in mitochondria

An engineered E. coli Nissle improves hyperammonemia and survival in mice and shows dose-dependent exposure in healthy humans

Metabolic control of cell death

Infant Assessment and Reduction of Sudden Unexpected Postnatal Collapse Risk During Skin-to-Skin Contact

Next Generation of Fluorine-Containing Pharmaceuticals, Compounds Currently in Phase II–III Clinical Trials of Major Pharmaceutical Companies: New Structural Trends and Therapeutic Areas

Physical illness in patients with severe mental disorders. I. Prevalence, impact of medications and disparities in health care

Investigating the functional link between TMEM165 and SPCA1

Phospholipase A₂Enzymes: Physical Structure, Biological Function, Disease Implication, Chemical Inhibition, and Therapeutic Intervention

Weight Gain and Insulin Resistance in Children Treated With Valproate: The Influence of Time

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

The enigmatic role of tafazzin in cardiolipin metabolism

Suggested guidelines for the diagnosis and management of urea cycle disorders

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

ALG8-CDG: novel patients and review of the literature

Effect of valproic acid treatment on body composition, leptin and the soluble leptin receptor in epileptic children

A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2

Ketogenic diets in patients with inherited metabolic disorders

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

Amino Acid Cerebrospinal Fluid/Plasma Ratios in Children: Influence of Age, Gender, and Antiepileptic Medication

Spectrum of combined respiratory chain defects

Early sudden unexpected death in infancy (ESUDI) – three case reports and review of the literature