Reviewer Board
Members of the reviewer board are selected from all IJNS reviewers for regularly providing timely high quality reports on submitted manuscripts. Responsibilities of reviewers are available here.
Members
Interests: lysosomal storage diseases; mucopolysaccharidoses; Sanfilippo syndrome; Mucolipidosis types II an III; molecular genetic testing; genotype-phenotype correlations; disease cellular models; RNA-based therapeutics; substrate reduction therapy(SRT); rna interference (rnai); siRNA nanodelivery systems
2. Public Health England, NHS Sickle Cell and Thalassemia Screening Programme, London SE16LH, UK
Interests: all aspects of screening and diagnosis of haemoglobinopathies
Interests: Biochemical Genetics; clinical biochemistry; laboratory informatics; decsion support; newborn screening
Interests: different approaches internationally to start, expand and improve neonatal screening programs
Interests: genetic diseases affecting infants and children; newborn screening; genetic epidemiology; expanded genetic analysis and next-generation sequencing in newborn screening; cystic fibrosis (cf); spinal muscular atrophy (sma); genetics of congenital malformations
Interests: newborn screening; genetics and genomics; inborn errors of metabolism; chemical pathology
Interests: clinical chemistry; mass spectrometry; high throughput; amino acids; acylcarnitines; organic acids
Interests: inborn errors of metabolism; peroxisomal and lysosomal disorders; reduction of false positive with second tier tests or novel biomarkers
Interests: hyperammonemia in neonates; lysosomal storage diseases on NBS; psychosocial impact of positive/false positive screenings on caregivers
Interests: screening for organic acidemias and fatty acid oxidation defects; expanded newborn screening; new treatment option of bezafibrate for fatty acid; molecular study on fatty acid oxidation defects oxidation defects