Editorial Board
Editors (4)
Swiss Newborn Screening Laboratory, Steinwiesstr. 75, CH-8032 Zurich, Switzerland
Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Special Issues and Collections in MDPI journals
Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Special Issues and Collections in MDPI journals
Dr. Peter C.J.I. Schielen
Editor-in-Chief
Editor-in-Chief
Reference Laboratory for Neonatal Screening, Centre for Infectious Diseases Research, Diagnostics and Sceening-IDS, National Institute of Public Health and the Environment – RIVM, NL-3720 BA Bilthoven, The Netherlands
Special Issues and Collections in MDPI journals
Special Issues and Collections in MDPI journals
Professor of Pediatrics, Perelman School of Medicine, University of Pennsylvania; Division of Human Genetics,Section of Metabolic disorders, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues and Collections in MDPI journals
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues and Collections in MDPI journals
Dr. Fred Lorey
Associate Editor
Associate Editor
Former Director, CA Newborn Screening Program; HHS Advisory Committee on Heritable Disorders; Advisory board for Save Babies through Screening and Human Longevity, Inc., Pleasant Hill, CA, USA
Interests: SCID; hemoglobinopathies; metabolic disorders; endocrine disorders; program development; bio banking; assistance to developing countries in setting up/expanding NBS; biological anthropology; genetic epidemiology
Special Issues and Collections in MDPI journals
Interests: SCID; hemoglobinopathies; metabolic disorders; endocrine disorders; program development; bio banking; assistance to developing countries in setting up/expanding NBS; biological anthropology; genetic epidemiology
Special Issues and Collections in MDPI journals
Advisory Board (7)
Prof. Neil R. M. Buist, MD, DCH, FRCPE, LLD
Professor Emeritus Pediatrics and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
Dr. W. Harry Hannon
Independent Consultant on Newborn Screening, 4929 Duncans Lake Point, Buford, GA 30519, USA
Professor of Pediatrics, Harvard Medical School; Division of Genetics and Genomics, Boston Children’s Hospital, 1 Autumn St., Boston, MA 02115, USA
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 and Collections in MDPI journals:
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 and Collections in MDPI journals:
Dr. Enzo Ranieri
South Australian Neonatal Screening Centre, Directorate of Genetic and Molecular Pathology Women’s and Children’s Hospital Campus, Adelaide SA Pathology, South Australia, Australia
em. Prof. Dr. Adelbert A. Roscher
Lindwurmstr. 4 80337 München Bayern Germany
Nat. Newborn Screening Global Research Center 3907 Galaxia Drive Austin, TX 78759, USA
Interests: inborn errors of metabolism and hemoglobinopathies; laboratory certification; and international laboratory guidelines and standards for newborn screening
Interests: inborn errors of metabolism and hemoglobinopathies; laboratory certification; and international laboratory guidelines and standards for newborn screening
Prof. Dr. Bridget Wilcken, AM, MD, FRACP, FRCPA (hon)
Senior Staff Physician, Genetic Metabolic Service, Sydney Children’s Hospital Randwick; Honorary Consultant, NSW Biochemical Genetics and Newborn Screening Services, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Editorial Board Members (20)
Dr. Osama Aldirbashi, FCCMG, DABMGG
Department of Pediatrics, UAE University, PO Box 17666, Al-Ain, UAE
Interests: newborn screening; mass spectrometry; inborn errors of metabolism; organic acidemias; peroxisomal disorders
Interests: newborn screening; mass spectrometry; inborn errors of metabolism; organic acidemias; peroxisomal disorders
Prof. Dr. Jim R. Bonham
Department of Clinical Chemistry, Sheffield Children's NHS Foundation Trust, Sheffield, S10 2TH, UK
Interests: quality assurance; inherited metabolic disorders; genomics; IT supporting patients; system governance
Special Issues and Collections in MDPI journals:
Interests: quality assurance; inherited metabolic disorders; genomics; IT supporting patients; system governance
Special Issues and Collections in MDPI journals:
Dr. Gustavo JC Borrajo *
Detección de Errores Congénitos, Fundación Bioquímica Argentina, Calle 6 # 1344, 1900, La Plata, Argentina
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 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
Screening center, Bavarian Health and Food Safety Authority, Veterinärstr. 2, 85764, Oberschleißheim, Germany
Interests: newborn hearing screening; neonatal screening; hearing disorder; epidemiology; tracking
Special Issues and Collections in MDPI journals:
Interests: newborn hearing screening; neonatal screening; hearing disorder; epidemiology; tracking
Special Issues and Collections in MDPI journals:
Director, Division of Inborn Errors of Metabolism, North East Italy Newborn Screening Center, University-Hospital of Padova, Italy
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 and Collections 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 and Collections in MDPI journals:
Division of Experimental Pediatrics & Metabolism University Children’s Hospital Heinrich Heine University Düsseldorf, Germany
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: newborn metabolic screening, metabolism, metabolite profiling, early origins of childhood obesity & associated metabolic disease, fetal metabolic programming, nutrient-sensing mechanisms, metabolic & nutritional medicine
Dr. James B. Gibson, MD
Section of Clinical and Metabolic Genetics, Dell Children's Medical Group, 1301 Barbara Jordan Blvd Ste 200, Austin, TX 78723, USA
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: 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
Prof. Dr. Gwendolyn Gramer
Medical Head of Newborn Screening, University Hospital Heidelberg; Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany
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: 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
Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden
Interests: primary immunodeficiency; genetics; newborn screening
Special Issues and Collections in MDPI journals:
Interests: primary immunodeficiency; genetics; newborn screening
Special Issues and Collections in MDPI journals:
Dr. Rasoul Alikhani Koupaei, DCC, FCACB, DABCC, FACB
Chief, Genetic Disease Laboratory Branch, CA Department of Public Health, 850 Marina Bay Parkway, G272 Richmond, CA 94804, USA
