Search research articles
Contact Us
Filters
Showing results (1-10 of 82) with videos related to
Page
of 9
Sort By:
Pediatric Nephrology (Berlin, Germany)
|
August 19, 2007
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn
Ivana Pela, Maria Alice Donati, Elena Procopio, et al.
Muscle & Nerve
|
January 28, 2003
Severe prognosis in a large family with hypokalemic periodic paralysis
Anna Caciotti, Amelia Morrone, Raffaele Domenici, et al.
Italian Journal of Pediatrics
|
June 13, 2019
Correction to: Newborn screening in mucopolysaccharidoses
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, et al.
Italian Journal of Pediatrics
|
November 17, 2018
Newborn screening in mucopolysaccharidoses
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, et al.
European Journal of Gastroenterology & Hepatology
|
January 12, 2008
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance
Anna Caciotti, Maria Alice Donati, Andrea Adami, et al.
Pediatric Nephrology (Berlin, Germany)
|
September 28, 2007
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?
Ivana Pela, Daniela Seracini, Maria Alice Donati, et al.
Neonatology
|
November 6, 2009
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria
Luca Filippi, Elena Gozzini, Patrizio Fiorini, et al.
Clinical Chemistry
|
May 19, 2007
Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry
Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 24, 2008
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient
Anna Caciotti, Maria Alice Donati, Alessandra d'Azzo, et al.
Molecular Genetics and Metabolism Reports
|
December 14, 2020
High frequency of biotinidase deficiency in Italian population identified by newborn screening
Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, et al.
Page
of 9
Search research articles
Search
Showing results (1-10 of 82) with videos related to
Sort By:
Page
of 9
Pediatric Nephrology (Berlin, Germany)
|
August 19, 2007
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn
Ivana Pela, Maria Alice Donati, Elena Procopio, et al.
Muscle & Nerve
|
January 28, 2003
Severe prognosis in a large family with hypokalemic periodic paralysis
Anna Caciotti, Amelia Morrone, Raffaele Domenici, et al.
Italian Journal of Pediatrics
|
June 13, 2019
Correction to: Newborn screening in mucopolysaccharidoses
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, et al.
Italian Journal of Pediatrics
|
November 17, 2018
Newborn screening in mucopolysaccharidoses
Maria Alice Donati, Elisabetta Pasquini, Marco Spada, et al.
European Journal of Gastroenterology & Hepatology
|
January 12, 2008
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance
Anna Caciotti, Maria Alice Donati, Andrea Adami, et al.
Pediatric Nephrology (Berlin, Germany)
|
September 28, 2007
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?
Ivana Pela, Daniela Seracini, Maria Alice Donati, et al.
Neonatology
|
November 6, 2009
N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria
Luca Filippi, Elena Gozzini, Patrizio Fiorini, et al.
Clinical Chemistry
|
May 19, 2007
Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry
Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 24, 2008
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient
Anna Caciotti, Maria Alice Donati, Alessandra d'Azzo, et al.
Molecular Genetics and Metabolism Reports
|
December 14, 2020
High frequency of biotinidase deficiency in Italian population identified by newborn screening
Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, et al.
Page
of 9