486 papers found
Refreshing results…
Ultra-orphan diseases: A quantitative analysis of the natural history of molybdenum cofactor deficiency
Entwicklung und Geschichte des Neugeborenenscreenings
Das erweiterte Neugeborenenscreening
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Hörscreening
Neue Zielkrankheiten – Ausblicke
Einleitung
Auswirkungen des Neugeborenenscreenings und der Erkrankungen auf Patienten und Familien
Ethische und rechtliche Grundlagen von Screeningprogrammen
Aktuelle Zielkrankheiten des Neugeborenenscreenings
Organisation und Ablauf des Neugeborenenscreenings
Langzeitbehandlungsergebnisse für im erweiterten Neugeborenenscreening erfasste Stoffwechselkrankheiten
Syndromic intellectual disability: A new phenotype caused by an 2 aromatic amino acid decarboxylase gene (DDC) variant
The extended nationwide newborn screening program in the state of Qatar (in cooperation with the Neonatal Screening Centre in University Children Hospital Heidelberg-Germany) — 10year outcome
Cell and Organ Transplantation for Inborn Errors of Metabolism
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I
A prospective three-step intervention study to prevent medication errors in drug handling in paediatric care
Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes
50 years of newborn screening
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF
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