Area of research
Clinical Biochemistry · Rheumatology
Research interest
Research focused on Urea cycle and Pediatrics, with related work in Hyperammonemia, Disease, Manganese. Notable publications include 'Suggested guidelines for the diagnosis and management of urea cycle disorders', 'Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision', and 'SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation'.
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Genetic landscape of pediatric acute liver failure of indeterminate origin
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders
Suggested guidelines for the diagnosis and management of urea cycle disorders