Editorial Board
Please note that the order in which the Editors appear on this page is alphabetical, and follows the structure of the editorial board presented on the MDPI website under information for editors: editorial board responsibilities.
Members (32)

Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Special Issues, Collections and Topics in MDPI journals

Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals

2. Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues, Collections and Topics in MDPI journals

Interests: tandem mass spectrometry; liquid chromatography-mass spectrometry; lysosomal storage disease biomarkers; digital microfluidic fluorometry; acylcarnitines; second-tier biochemical testing
Special Issues, Collections and Topics in MDPI journals

Interests: newborn screening (programme audit, metrics, policy, definitions, guidelines, quality)
Special Issues, Collections and Topics in MDPI journals
Advisory Board Member

Interests: neonatal screening; inborn errors of metabolism; phenylketonuria; homocystinuria; galactosemia; endocrine disorders; program development; bio banking; assistance to developing countries in setting up/expanding NBS; biological anthropology; genetic epidemiology
Special Issues, Collections and Topics in MDPI journals
Advisory Board Member

Interests: inborn errors of metabolism and hemoglobinopathies; laboratory certification; international laboratory guidelines and standards for newborn screening

Interests: newborn screening; mass spectrometry; inborn errors of metabolism; organic acidemias; peroxisomal disorders

Interests: newborn screening; cystic fibrosis; SCID; spinal muscular atrophy

Interests: quality assurance; inherited metabolic disorders; genomics; IT supporting patients; system governance
Special Issues, Collections and Topics in MDPI journals

Interests: newborn screening, with emphasis on analytical and quality assurance issues; PKU, CH, Cystic Fibrosis, Galactosemia, CAH, Biotinidase Deficiency, MSUD and Tandem Mass Spectrometry; assistance to Latin American countries in setting up newborn screening activities
* Region Latin America

Interests: newborn hearing screening; neonatal screening; hearing disorder; epidemiology; tracking
Special Issues, Collections and Topics in MDPI journals

Interests: clinical and biochemical characterisation of inborn errors of intermediary metabolism; clinical application of tandem mass spectrometry; neurotransmitters defects; metabolic diseases in adulthood; development of new therapies; NBS new programs for inborn errors of metabolism
Special Issues, Collections and Topics in MDPI journals

2. Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Interests: lysosomal storage diseases; mucopolysaccharidoses; newborn screening
Special Issues, Collections and Topics in MDPI journals

Interests: newborn metabolic screening; metabolism; metabolite profiling; early origins of childhood obesity & associated metabolic disease; fetal metabolic programming; nutrient-sensing mechanisms; metabolic & nutritional medicine
Interests: inborn errors of metabolism; hypoglycemia; long term and treatment-stratified outcomes of patients detected by newborn screening; development of treatment options for potentially screenable disorders; telemedicine delivery of genetic consultative and management services; ethical and societal challenges in the expansion of screening programs

Interests: newborn screening; inborn errors of metabolism; endocrine disorders; cystic fibrosis; extension of newborn screening programmes; second-tier testing; vitamin B12 deficiency; long-term outcome of patients detected by newborn screening; screening for disease in ophthalmology; ophthalmological manifestations of metabolic disorders; glaucoma screening

Interests: primary immunodeficiency; genetics; newborn screening
Special Issues, Collections and Topics in MDPI journals

2. Starship Children's Hospital, Auckland District Health Board, Auckland 1023, New Zealand
3. Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening; CAH; CH; public health outcomes
Special Issues, Collections and Topics in MDPI journals

Interests: sickle cell disease; thalassemia; hemoglobinopathies; newborn screening; digital health interventions
Special Issues, Collections and Topics in MDPI journals

Interests: quality assurance; newborn screening; filter paper blood collection device
Special Issues, Collections and Topics in MDPI journals

Editorial Board Member
Interests: newborn screening for Duchenne and congenital muscular dystrophy including DNA confirmation using targeted NGS; Prenatal and newborn screening for lead and other heavy metals (Inductively Coupled Plasma-Mass Spectrometry); use of tandem mass spectrometry for newborn screening; development of 2nd-tier DNA confirmation for primary newborn screening
Special Issues, Collections and Topics in MDPI journals

2. Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, S-171 76 Stockholm, Sweden
Interests: CAH; newborn screening; disorders of sex development
Special Issues, Collections and Topics in MDPI journals

Interests: newborn screening; lysosomal storage disorders; Krabbe disease; genetics
Special Issues, Collections and Topics in MDPI journals

Interests: inborn errors of metabolism; newborn screening; mass spectrometry; metabolomics
Editorial Board Member
Editorial Board Member
* Region Middle East & North Africa

Interests: newborn screening; clinical laboratory science; quality assurance; quality improvement; program evaluation; information management; technical assistance; policy development
