Enrico Zammarchi
Overview
Explore the profile of Enrico Zammarchi including associated specialties, affiliations and a list of published articles.
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Articles
30
Citations
423
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Recent Articles
1.
la Marca G, Malvagia S, Pasquini E, Cavicchi C, Morrone A, Ciani F, et al.
JIMD Rep
. 2013 Feb;
1:107-9.
PMID: 23430836
Tyrosinemia type I is a genetic disorder characterized by accumulation in the blood and urine of the toxic metabolite succinylacetone (SUAC), not detectable in healthy samples. In many countries, newborns...
2.
la Marca G, Malvagia S, Funghini S, Pasquini E, Moneti G, Guerrini R, et al.
Rapid Commun Mass Spectrom
. 2009 Nov;
23(23):3891-3.
PMID: 19902423
No abstract available.
3.
la Marca G, Casetta B, Malvagia S, Guerrini R, Zammarchi E
Anal Chem
. 2009 Jun;
81(15):6113-21.
PMID: 19555116
The aim of this study was to set up a robust method suitable for large-scale studies (screening) with a minimized preparation process and with reduced running costs, for measuring five...
4.
Caciotti A, Donati M, dAzzo A, Salvioli R, Guerrini R, Zammarchi E, et al.
Eur J Paediatr Neurol
. 2008 Jun;
13(2):160-4.
PMID: 18571950
Background: The glycosphingolipid storage disorder GM1-gangliosidosis is a severe neurodegenerative condition for which no therapy is currently available. Protein misfolding in lysosomal defects may have the potential to be corrected...
5.
Filoni C, Caciotti A, Carraresi L, Donati M, Mignani R, Parini R, et al.
Eur J Hum Genet
. 2008 Jun;
16(11):1311-7.
PMID: 18560446
Total or partial deficiency of the human lysosomal hydrolase alpha-galactosidase A is responsible for Fabry disease, the X-linked inborn error of glycosphingolipid metabolism. Together with the predominant alpha-galactosidase A gene...
6.
la Marca G, Malvagia S, Pasquini E, Innocenti M, Fernandez M, Donati M, et al.
Rapid Commun Mass Spectrom
. 2008 Feb;
22(6):812-8.
PMID: 18278819
In expanded newborn screening programs by liquid chromatography/tandem mass spectrometry false negatives for tyrosinemia type I are a significant problem. We describe a method for inclusion of succinylacetone in order...
7.
Caciotti A, Donati M, Adami A, Guerrini R, Zammarchi E, Morrone A
Eur J Gastroenterol Hepatol
. 2008 Jan;
20(2):118-21.
PMID: 18188031
Objectives: Hereditary fructose intolerance is caused by a deficiency of the aldolase B enzyme, which is expressed in the liver, small intestine and kidneys. Patients usually show a marked aversion...
8.
la Marca G, Malvagia S, Pasquini E, Innocenti M, Donati M, Zammarchi E
Clin Chem
. 2007 May;
53(7):1364-9.
PMID: 17510301
Background: The expansion of newborn screening programs has increased the number of newborns diagnosed with inborn errors of metabolism in the presymptomatic phase, but it has also increased the number...
9.
Caciotti A, Donati M, Procopio E, Filocamo M, Kleijer W, Wuyts W, et al.
Hum Mutat
. 2007 Jan;
28(2):204.
PMID: 17221873
The human GLB1 gene produces two alternatively spliced transcripts that encode the lysosomal enzyme beta-galactosidase (GLB1) and the elastin binding protein (EBP). Mutations at the GLB1 locus, which are responsible...
10.
la Marca G, Casetta B, Malvagia S, Pasquini E, Innocenti M, Donati M, et al.
J Mass Spectrom
. 2006 Oct;
41(11):1442-52.
PMID: 17061293
Purines and pyrimidines are the basic constituents of DNA and RNA and constitute the basis of at least 50 other important compounds that serve equally vital but separate roles as...