A neonate with abdominal distension and failure to thrive.
Pediatric Clinic, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.
Elisa
E
Tadiotto
Inherited Metabolic Diseases Unit, Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Evelina
E
Maines
Pediatric Clinic, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.
Daniela
D
Degani
Pediatric Clinic, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.
Claudia
C
Banzato
Pediatric Clinic, Department of Life and Reproduction Sciences, University of Verona, Verona, Italy.
Rita
R
Balter
Inherited Metabolic Diseases Unit, Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Giorgia
G
Gugelmo
Regional Coordinator Centre for Rare Diseases, University Hospital "Santa Maria della Misericordia", Udine, Italy.
Andrea
A
Dardis
Head of Mass Spectrometry Lab, Women's and Children's Health Department, University of Padua, Institute for Pediatric Research (IRP), Padua, Italy.
Giuseppe
G
Giordano
Inherited Metabolic Diseases Unit, Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Andrea
A
Bordugo
D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000005:Abdomen / Q000000981:diagnostic imaging / Q000503:physiopathology; D005183:Failure to Thrive / Q000175:diagnosis / Q000188:drug therapy*; D065089:Glycoside Hydrolase Inhibitors / Q000627:therapeutic use*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000188:drug therapy*; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000188:drug therapy*; D008297:Male; D016896:Treatment Outcome
D065089:Glycoside Hydrolase Inhibitors; D017485:1-Deoxynojirimycin; C059896:miglustat
General Paediatrics; Hepatology; Metabolic; hematology