Suchergebnisse - Daniela Gueraldi
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Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden von Chiara Cazzorla, Vincenza Gragnaniello, Giacomo Gaiga, Daniela Gueraldi, Andrea Puma, Christian Loro, G L Benetti, Rossana Schiavo, Elena Porcù, Alessandro P. Burlina, Alberto Burlina
Veröffentlicht 2025Artigo -
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Newborn screening for Pompe disease in Italy: Long-term results and future challenges von Vincenza Gragnaniello, Pim W.W.M. Pijnappel, Alessandro P. Burlina, Stijn L.M. in ‘t Groen, Daniela Gueraldi, Chiara Cazzorla, Evelina Maines, Giulia Polo, Leonardo Salviati, Giovanni Di Salvo, Alberto Burlina
Veröffentlicht 2022Artigo
Suchwerkzeuge:
Ähnliche Schlagworte
Disease
Medicine
Newborn screening
Pediatrics
Biology
Enzyme replacement therapy
Fabry disease
Internal medicine
Chemistry
Chromatography
Dried blood
Dried blood spot
Genetics
Lysosomal storage disease
Pathology
Asymptomatic
Biochemistry
Bioinformatics
Biomarker
Clinical phenotype
Clinical psychology
Gene
Glycogen storage disease type II
Hunter syndrome
Hurler syndrome
Incidence (geometry)
Intensive care medicine
Lysosomal storage disorders
Mucopolysaccharidosis
Mucopolysaccharidosis I