Cargando…

Towards Achieving Equity and Innovation in Newborn Screening across Europe

Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sikonja, Jaka, Groselj, Urh, Scarpa, Maurizio, la Marca, Giancarlo, Cheillan, David, Kölker, Stefan, Zetterström, Rolf H., Kožich, Viktor, Le Cam, Yann, Gumus, Gulcin, Bottarelli, Valentina, van der Burg, Mirjam, Dekkers, Eugenie, Battelino, Tadej, Prevot, Johan, Schielen, Peter C. J. I., Bonham, James R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149820/ https://www.ncbi.nlm.nih.gov/pubmed/35645285 http://dx.doi.org/10.3390/ijns8020031

Ejemplares similares

Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH(4))-responsiveness in patients with hyperphenylalaninemia
por: Lampret, Barbka Repic, et al.
Publicado: (2022)

Analysis of Insulin Resistance Among Children and Adolescents in Slovenia With Hypercholesterolemia After Treatment With Statins
por: Groselj, Urh, et al.
Publicado: (2022)

Newborn Screening in a Pandemic—Lessons Learned
por: Mlinaric, Matej, et al.
Publicado: (2023)

Sex-Related Differences in Cardiovascular Disease Risk Profile in Children and Adolescents with Type 1 Diabetes
por: Smigoc Schweiger, Darja, et al.
Publicado: (2021)

Global impact of COVID-19 on newborn screening programmes
por: Koracin, Vanesa, et al.
Publicado: (2022)

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia
por: Stanimirovic, Dalibor, et al.
Publicado: (2019)

High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia
por: Blinc, Lana, et al.
Publicado: (2020)

Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe
por: Scarpa, Maurizio, et al.
Publicado: (2022)

Carotid Intima-Media Thickness in Healthy Children and Adolescents: Normative Data and Systematic Literature Review
por: Drole Torkar, Ana, et al.
Publicado: (2020)

Drafting a blueprint for the design of a rare disease ecosystem in Slovenia: Identifying salient opportunities and outlining policy recommendations
por: Stanimirovic, Dalibor, et al.
Publicado: (2021)

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach
por: Stanimirovic, Dalibor, et al.
Publicado: (2021)

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review
por: Arko, Janez Jan, et al.
Publicado: (2020)

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
por: Štajer, Katarina, et al.
Publicado: (2023)

Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review
por: Mlinaric, Matej, et al.
Publicado: (2020)

Evaluation of Body Mass Index, Overweight and Obesity Status, and Cholesterol Levels in Younger Children
por: Sustar, Ursa, et al.
Publicado: (2023)

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
por: Sikonja, Jaka, et al.
Publicado: (2021)

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency
por: Krasovec, Tjasa, et al.
Publicado: (2022)

Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study
por: Sadiq, Fouzia, et al.
Publicado: (2023)

Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA
por: Marusic, Tatiana, et al.
Publicado: (2020)

Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia
por: Zerjav Tansek, Mojca, et al.
Publicado: (2020)

Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa
por: Marusic, Tatiana, et al.
Publicado: (2020)

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene
por: Pajek, Maja, et al.
Publicado: (2020)

An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature
por: Hovnik, Tinka, et al.
Publicado: (2022)

Next-Generation Sequencing in Newborn Screening: A Review of Current State
por: Remec, Ziga I., et al.
Publicado: (2021)

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
por: Bizjak, Neli, et al.
Publicado: (2020)

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review
por: Sustar, Ursa, et al.
Publicado: (2022)

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
por: Loeber, J. Gerard, et al.
Publicado: (2021)

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening
por: Smon, Andraz, et al.
Publicado: (2018)

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
por: Sustar, Ursa, et al.
Publicado: (2022)

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A
por: Kavčič, Alja, et al.
Publicado: (2022)

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant
por: Suput Omladic, Jasna, et al.
Publicado: (2021)

Two Cases With an Early Presented Proopiomelanocortin Deficiency—A Long-Term Follow-Up and Systematic Literature Review
por: Gregoric, Nadan, et al.
Publicado: (2021)

Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program
por: Perko, Dasa, et al.
Publicado: (2022)

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review
por: Molk, Neza, et al.
Publicado: (2023)

Newborn Screening in Slovenia
por: ŠMON, Andraž, et al.
Publicado: (2015)

Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series
por: Marusic, Tatiana, et al.
Publicado: (2020)

Reye Syndrome with Severe Hyperammonemia and a Good Neurological Outcome
por: Pribožič, Lucija, et al.
Publicado: (2021)

Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria
por: Perko, Dasa, et al.
Publicado: (2023)

Ethics of Vaccination in Childhood—A Framework Based on the Four Principles of Biomedical Ethics
por: Rus, Meta, et al.
Publicado: (2021)

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series
por: Zerjav Tansek, Mojca, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_d8voc9hurqalck5al8vlhvgjj1