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


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Department of Human Genetics, Research and Development Unit, National Health Institute Doutor Ricardo Jorge, Rua Alexandre Herculano, 321 4000-055 Porto, Portugal
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

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1. Haematological Sciences, Viapath at Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK
2. Public Health England, NHS Sickle Cell and Thalassemia Screening Programme, London SE16LH, UK
Interests: all aspects of screening and diagnosis of haemoglobinopathies

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Newborn Screening Ontario, University of Ottawa, 415 Smyth Road, Ottawa, ON K1H 8M8, Canada
Interests: Biochemical Genetics; clinical biochemistry; laboratory informatics; decsion support; newborn screening
Centre for Health Protection, National Institute for Public Health and the Environment, NL-3720 BA Bilthoven, The Netherlands
Interests: different approaches internationally to start, expand and improve neonatal screening programs
Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12201, USA
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
Newborn Screening Laboratory for Inborn Errors of Metabolism and Chemical Pathology Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China
Interests: newborn screening; genetics and genomics; inborn errors of metabolism; chemical pathology
Department of Chemistry, Cleveland State University, Cleveland, OH 44115, USA
Interests: clinical chemistry; mass spectrometry; high throughput; amino acids; acylcarnitines; organic acids

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Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Interests: inborn errors of metabolism; peroxisomal and lysosomal disorders; reduction of false positive with second tier tests or novel biomarkers

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Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA
Interests: hyperammonemia in neonates; lysosomal storage diseases on NBS; psychosocial impact of positive/false positive screenings on caregivers

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Department of Pediatrics, Shimane University School of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Shimane, Japan
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
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