Neonatal metabolic screening aims at identifying newborns with severe metabolic pathologies in order to promote appropriate interventions to avoid or to improve adverse outcomes. Tandem Mass Spectrometry permits, from a blood drop, collected on a blotting paper by a puncture on the heel, to measure a lot of metabolites according to their mass; this method can identify more than 30 metabolites, each of which is a potential marker of a hereditary metabolic disease. The large amount of available information and the difficulty in correctly interpreting them in a short time, compatible with the exigencies of newborns, imposes to find an optimal management of structures devoted to perform the related tests. In the paper four different solutions, ...
BACKGROUND: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs ...
This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectromet...
dimensioning. Inherited metabolic diseases are rare but may cause severe damages if not cared for in...
The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorde...
Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzym...
Since 1961, newborn screening for errors of metabolism (EM) has improved the diagnosis, treat-ment a...
Since 1961 newborn screening for errors of metabolism (EM) has improved the diagnosis, treatment and...
Since I 96 I nt:\ \ born screening for t.:rror!t of mctabolbm (E\1) lla!> unpro\-ctl the di.1~o!t...
The traditional focus of newborn screening for inherited metabolic diseases is to test infants for m...
: OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal scree...
The expanded newborn screening for selected inborn errors of metabolism (IEM) in Sicily was introduc...
Currently, slightly more than 4.1 million babies are born annually in the USA (1). Each baby born wi...
Tandem mass spectrometry (MS/MS) has been used for sev-eral years to identify and measure carnitine ...
Objectives: To evaluate the clinical and costeffectiveness of tandem mass spectrometry (MS)-bas...
BACKGROUND According to the results of the researches common indexes of the prevalence of inherited...
BACKGROUND: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs ...
This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectromet...
dimensioning. Inherited metabolic diseases are rare but may cause severe damages if not cared for in...
The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorde...
Inborn errors of metabolism are inherited biochemical disorders caused by lack of a functional enzym...
Since 1961, newborn screening for errors of metabolism (EM) has improved the diagnosis, treat-ment a...
Since 1961 newborn screening for errors of metabolism (EM) has improved the diagnosis, treatment and...
Since I 96 I nt:\ \ born screening for t.:rror!t of mctabolbm (E\1) lla!> unpro\-ctl the di.1~o!t...
The traditional focus of newborn screening for inherited metabolic diseases is to test infants for m...
: OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal scree...
The expanded newborn screening for selected inborn errors of metabolism (IEM) in Sicily was introduc...
Currently, slightly more than 4.1 million babies are born annually in the USA (1). Each baby born wi...
Tandem mass spectrometry (MS/MS) has been used for sev-eral years to identify and measure carnitine ...
Objectives: To evaluate the clinical and costeffectiveness of tandem mass spectrometry (MS)-bas...
BACKGROUND According to the results of the researches common indexes of the prevalence of inherited...
BACKGROUND: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs ...
This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectromet...
dimensioning. Inherited metabolic diseases are rare but may cause severe damages if not cared for in...