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E. Pasquini · SciRah

Researcher profile · Semantic Scholar

E. Pasquini

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E. Pasquini — researcher profile on SciRah

h-index: 31
Works: 75
Citations: 2,979

Most-cited papers

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
D. McHugh, C. Cameron, J. Abdenur, M. Abdulrahman +242 more
2011Genetics in Medicine338 citations Open access
Semantic Scholar
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
M. Huemer, D. Diodato, B. Schwahn, M. Schiff +14 more
2016Journal of Inherited Metabolic Disease280 citations Open access
Semantic Scholar
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy.
E. Mazzone, D. Martinelli, A. Berardinelli, S. Messina +29 more
2010Neuromuscular Disorders211 citations
Semantic Scholar
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
A. Caciotti, S. Garman, Y. Rivera-Colón, E. Procopio +28 more
2011Biochimica et Biophysica Acta143 citations Open access
Semantic Scholar
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, R. Currier, D. McHugh, D. Gavrilov +123 more
2012Genetics in Medicine125 citations Open access
Semantic Scholar
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.
G. la Marca, S. Malvagia, E. Pasquini, M. Innocenti +2 more
2007Clinical Chemistry123 citations Open access
Semantic Scholar
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)
Claudio Bruno, O. V. van Diggelen, D. Cassandrini, Marina Gimpelev +18 more
2004Neurology122 citations
Semantic Scholar
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
M. Huemer, V. Kožich, P. Rinaldo, M. Baumgartner +4 more
2015Journal of Inherited Metabolic Disease120 citations Open access
Semantic Scholar
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
S. Grünert, M. Stucki, R. Morscher, T. Suormala +14 more
2012Orphanet Journal of Rare Diseases88 citations Open access
Semantic Scholar
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.
G. la Marca, S. Malvagia, E. Pasquini, M. Innocenti +3 more
2008Rapid Communications in Mass Spectrometry72 citations
Semantic Scholar
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests
G. Marca, S. Malvagia, B. Casetta, E. Pasquini +2 more
2008Journal of Inherited Metabolic Disease68 citations
Semantic Scholar
Adult height comparison between boys and girls with precocious puberty after long‐term gonadotrophin‐releasing hormone analogue therapy
F. Galluzzi, R. Salti, G. Bindi, E. Pasquini +1 more
1998Acta paediatrica63 citations
Semantic Scholar
Newborn screening in mucopolysaccharidoses
M. Donati, E. Pasquini, M. Spada, G. Polo +1 more
2018Italian Journal of Pediatrics60 citations Open access
Semantic Scholar
Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants
B. Giusti, Anna Vestrini, C. Poggi, Alberto Magi +3 more
2012Free radical research59 citations
Semantic Scholar
Genetic Contributions to the Development of Complications in Preterm Newborns
C. Poggi, B. Giusti, E. Gozzini, Alice Sereni +5 more
2015PLoS ONE49 citations Open access
Semantic Scholar
A genetic modifier of symptom onset in Pompe disease
Atze J. Bergsma, Stijn L. M. In 't Groen, J. V. D. van den Dorpel, H. V. D. van den Hout +11 more
2019EBioMedicine47 citations Open access
Semantic Scholar
Genetic polymorphisms of antioxidant enzymes in preterm infants
C. Poggi, B. Giusti, A. Vestri, E. Pasquini +2 more
2012Journal of Maternal-Fetal & Neonatal Medicine46 citations
Semantic Scholar
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
C. Cavicchi, S. Malvagia, G. la Marca, S. Gasperini +5 more
2009Journal of Pharmaceutical and Biomedical Analysis44 citations
Semantic Scholar
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?
I. Pela, D. Seracini, M. Donati, G. Lavoratti +2 more
2008Pediatric nephrology (Berlin, West)41 citations
Semantic Scholar
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro
M. Traverso, E. Gazzerro, S. Assereto, F. Sotgia +12 more
2008Laboratory Investigation40 citations Open access
Semantic Scholar
The Italian screening program for primary congenital hypothyroidism: Actions to improve screening, diagnosis, follow-up, and surveillance
A. Cassio, C. Corbetta, I. Antonozzi, F. Calaciura +11 more
2013Journal of Endocrinological Investigation39 citations
Semantic Scholar
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.
A. Morrone, S. Malvagia, M. Donati, Silvia Funghini +6 more
2002American journal of medical genetics39 citations
Semantic Scholar
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
C. Cavicchi, M. Donati, R. Parini, M. Rigoldi +11 more
2014Orphanet Journal of Rare Diseases38 citations Open access
Semantic Scholar
Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples.
G. la Marca, B. Casetta, S. Malvagia, E. Pasquini +3 more
2006Journal of Mass Spectrometry38 citations
Semantic Scholar
Newborn screening for homocystinurias: recent recommendations versus current practice
R. Keller, P. Chrastina, M. Pavlíková, S. Gouveia +52 more
2018Journal of Inherited Metabolic Disease37 citations Open access
Semantic Scholar
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.
G. la Marca, S. Malvagia, B. Casetta, E. Pasquini +4 more
2006Journal of Mass Spectrometry36 citations Open access
Semantic Scholar
Failure of Early Dextromethorphan and Sodium Benzoate Therapy in an Infant with Nonketotic Hyperglycinemia
E. Zammarchi, M. Donati, F. Ciani, E. Pasquini +2 more
1994Neuropediatrics34 citations
Semantic Scholar
Clinical profile and outcome of cardiac involvement in MELAS syndrome.
A. Brambilla, S. Favilli, I. Olivotto, G. Calabri +5 more
2019International Journal of Cardiology33 citations Open access
Semantic Scholar
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.
D. Diodato, F. Invernizzi, E. Lamantea, G. Fagiolari +13 more
2015JIMD Reports33 citations Open access
Semantic Scholar
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.
E. Bertini, M. Donati, P. Broda, D. Cassandrini +9 more
2005Neuropediatrics33 citations
Semantic Scholar
Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.
Nicoletta Gasparotto, R. Tomanin, A. Frigo, G. Niizawa +6 more
2009Clinica chimica acta; international journal of clinical chemistry32 citations
Semantic Scholar
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
Rodolfo Tonin, A. Caciotti, S. Funghini, E. Pasquini +12 more
2016BBA Clinical29 citations Open access
Semantic Scholar
Barth syndrome presenting with acute metabolic decompensation in the neonatal period
M. Donati, S. Malvagia, E. Pasquini, A. Morrone +4 more
2006Journal of Inherited Metabolic Disease26 citations Open access
Semantic Scholar
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
S. Malvagia, G. la Marca, B. Casetta, S. Gasperini +3 more
2006Journal of Mass Spectrometry26 citations
Semantic Scholar
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions
S. Funghini, M. A. Donati, E. Pasquini, E. Zammarchi +1 more
2003Human Mutation26 citations Open access
Semantic Scholar
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16
S. Malvagia, Laura Papi, Amelia Morrone, M. A. Donati +6 more
2007Annals of Human Genetics24 citations
Semantic Scholar
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.
Silvia Funghini, E. Pasquini, M. Cappellini, M. Donati +3 more
2001Molecular Genetics and Metabolism24 citations
Semantic Scholar
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
C. Carducci, S. Santagata, J. Friedman, E. Pasquini +4 more
2015Molecular Genetics and Metabolism23 citations
Semantic Scholar
The De Novo Q167K Mutation in the POU1F1 Gene Leads to Combined Pituitary Hormone Deficiency in an Italian Patient
S. Malvagia, G. Poggi, E. Pasquini, M. Donati +3 more
2003Pediatric Research23 citations
Semantic Scholar
Lethal late onset cblB methylmalonic aciduria
F. Ciani, M. Donati, G. Tulli, G. Poggi +3 more
2000Critical Care Medicine20 citations
Semantic Scholar
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.
E. Zammarchi, F. Ciani, E. Pasquini, Giuseppe Bonocore +2 more
1997Jornal de Pediatria18 citations
Semantic Scholar
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
G. la Marca, S. Malvagia, E. Pasquini, C. Cavicchi +6 more
2011JIMD Reports16 citations Open access
Semantic Scholar
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
S. Bisanzi, A. Morrone, M. Donati, E. Pasquini +6 more
2002Molecular Genetics and Metabolism16 citations
Semantic Scholar
Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients
G. Bacci, M. A. Donati, E. Pasquini, F. Munier +8 more
2017Acta ophthalmologica15 citations Open access
Semantic Scholar
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.
G. la Marca, S. Malvagia, S. Funghini, E. Pasquini +3 more
2009Rapid Communications in Mass Spectrometry15 citations Open access
Semantic Scholar
Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function.
I. Pela, S. Gasperini, E. Pasquini, M. Donati
2006Clinical Nephrology13 citations
Semantic Scholar
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
G. la Marca, S. Malvagia, M. Donati, A. Morrone +2 more
2003Rapid Communications in Mass Spectrometry12 citations Open access
Semantic Scholar
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies
Serena Catarzi, A. Caciotti, J. Thusberg, Rodolfo Tonin +10 more
2013TheScientificWorldJournal10 citations Open access
Semantic Scholar
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
C. Cavicchi, M. Donati, S. Funghini, G. la Marca +6 more
2005Clinical Genetics10 citations Open access
Semantic Scholar
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening
Silvia Funghini, M. Donati, E. Pasquini, S. Gasperini +3 more
2002Journal of Inherited Metabolic Disease10 citations
Semantic Scholar

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M. Donati — researcher profile on SciRah
G. la Marca×18
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G. la Marca — researcher profile on SciRah
S. Malvagia×16
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A. Morrone×14
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E. Zammarchi — researcher profile on SciRah

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F. Ciani — researcher profile on SciRah

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C. Carducci — researcher profile on SciRah