Cargando…

Current Status of Newborn Screening in Southeastern Europe

Significant part of Southeastern Europe (with a population of 76 million) has newborn screening (NBS) programs non-harmonized with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region (Albania, Bulgaria, Bosnia and Herzegovina (BIH), Croatia, Kos...

Descripción completa

Detalles Bibliográficos
Autores principales:	Koracin, Vanesa, Mlinaric, Matej, Baric, Ivo, Brincat, Ian, Djordjevic, Maja, Drole Torkar, Ana, Fumic, Ksenija, Kocova, Mirjana, Milenkovic, Tatjana, Moldovanu, Florentina, Mulliqi Kotori, Vjosa, Nanu, Michaela Iuliana, Remec, Ziga Iztok, Repic Lampret, Barbka, Platis, Dimitrios, Savov, Alexey, Samardzic, Mira, Suzic, Biljana, Szatmari, Ildiko, Toromanovic, Alma, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138576/ https://www.ncbi.nlm.nih.gov/pubmed/34026686 http://dx.doi.org/10.3389/fped.2021.648939

Ejemplares similares

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

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)

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)

Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing
por: Lampret, Barbka Repič, et al.
Publicado: (2020)

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program
por: Remec, Ziga I., et al.
Publicado: (2021)

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)

Newborn Screening in a Pandemic—Lessons Learned
por: Mlinaric, Matej, 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)

Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries
por: Zerjav Tansek, Mojca, et al.
Publicado: (2015)

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

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

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

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)
por: Lampret, Barbka Repic, et al.
Publicado: (2015)

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

Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population
por: Lampret, Barbka Repič, et al.
Publicado: (2015)

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

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

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)

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)

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

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)

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

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)

Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome
por: Spahiu, Lidvana, et al.
Publicado: (2016)

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)

Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region
por: Dimishkovska, Marija, et al.
Publicado: (2018)

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)

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

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)

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)

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)

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

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)

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Saho, Robert, et al.
Publicado: (2023)

Phenylalanine-tRNA aminoacylation is compromised by ALS/FTD-associated C9orf72 C4G2 repeat RNA
por: Malnar Črnigoj, Mirjana, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_30gmo9qk8c4vo0e1idkihj9gp9