Rare disease registries are key to evidence-based personalized medicine: highlighting the European experience
S Kölker, F Gleich, U Mütze, T Opladen - Frontiers in Endocrinology, 2022 - frontiersin.org
Rare diseases, such as inherited metabolic diseases, have been identified as a health
priority within the European Union more than 20 years ago and have become an integral …
priority within the European Union more than 20 years ago and have become an integral …
Towards achieving equity and innovation in newborn screening across Europe
J Sikonja, U Groselj, M Scarpa, G la Marca… - International Journal of …, 2022 - mdpi.com
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 …
known rare diseases affect more than 30 million people in Europe, and present a substantial …
Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria
E Schnabel, S Kölker, F Gleich, P Feyh, F Hörster… - Nutrients, 2023 - mdpi.com
Newborn screening (NBS) programs are effective measures of secondary prevention and
have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias …
have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias …
[HTML][HTML] Neonatal screening for congenital metabolic and endocrine disorders: Results from Germany for the years 2006–2018
A Lüders, O Blankenstein, I Brockow… - Deutsches Ärzteblatt …, 2021 - ncbi.nlm.nih.gov
Background The purpose of neonatal screening is the early detection of congenital
metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long …
metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long …
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
EM Maier, U Mütze, N Janzen… - Journal of Inherited …, 2023 - Wiley Online Library
Analytical and therapeutic innovations led to a continuous but variable extension of newborn
screening (NBS) programmes worldwide. Every extension requires a careful evaluation of …
screening (NBS) programmes worldwide. Every extension requires a careful evaluation of …
Is our newborn screening Working Well? A Literature Review of Quality requirements for newborn blood spot screening (NBS) infrastructure and procedures
B Odenwald, I Brockow, M Hanauer, A Lüders… - International Journal of …, 2023 - mdpi.com
Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly
successful procedure in secondary prevention. For a number of congenital disorders, severe …
successful procedure in secondary prevention. For a number of congenital disorders, severe …
Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review
The development and continuous optimization of newborn screening (NBS) programs
remains an important and challenging task due to the low prevalence of screened diseases …
remains an important and challenging task due to the low prevalence of screened diseases …
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
U Mütze, L Henze, J Schröter, F Gleich… - Journal of inherited …, 2023 - Wiley Online Library
Newborn screening (NBS) allows early identification of individuals with rare disease, such
as isovaleric aciduria (IVA). Reliable early prediction of disease severity of positively …
as isovaleric aciduria (IVA). Reliable early prediction of disease severity of positively …
[HTML][HTML] Target Diseases for Neonatal Screening in Germany: Challenges for Treatment and Long-Term Care
U Spiekerkoetter, H Krude - Deutsches Ärzteblatt International, 2022 - ncbi.nlm.nih.gov
Background Neonatal screening in Germany currently comprises 19 congenital diseases, 13
of which are metabolic diseases. Approximately one in 1300 newborns suffers from one of …
of which are metabolic diseases. Approximately one in 1300 newborns suffers from one of …
Machine learning methods improve specificity in newborn screening for isovaleric aciduria
Isovaleric aciduria (IVA) is a rare disorder of leucine metabolism and part of newborn
screening (NBS) programs worldwide. However, NBS for IVA is hampered by, first, the …
screening (NBS) programs worldwide. However, NBS for IVA is hampered by, first, the …