E
Enrico Zammarchi
Researcher at University of Florence
Publications - 99
Citations - 3951
Enrico Zammarchi is an academic researcher from University of Florence. The author has contributed to research in topics: Gene & Newborn screening. The author has an hindex of 31, co-authored 99 publications receiving 3762 citations. Previous affiliations of Enrico Zammarchi include Boston Children's Hospital.
Papers
More filters
Journal ArticleDOI
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
Charles A. Stanley,Yen K. Lieu,Betty Y.L. Hsu,Alberto Burlina,Cheryl R. Greenberg,Nancy J. Hopwood,Kusiel Perlman,Barry H. Rich,Enrico Zammarchi,Mortimer Poncz +9 more
TL;DR: The hyperinsulinism-hyperammonemia syndrome is caused by mutations in the glutamate dehydrogenase gene that impair the control of enzyme activity, consistent with overactivity of the enzyme.
Journal ArticleDOI
MELAS: Clinical features, biochemistry, and molecular genetics
Emma Ciafaloni,Enzo Ricci,S. Shanske,Carlos T. Moraes,Gabriella Silvestri,Michio Hirano,Simonetta Simonetti,Corrado Angelini,M.A. Donati,C. Garcia,Andrea Martinuzzi,R. K. Mosewich,Serenella Servidei,Enrico Zammarchi,Eduardo Bonilla,Darryl C. DeVivo,Lewis P. Rowland,Eric A. Schon,Salvatore DiMauro +18 more
TL;DR: There was no clear correlation between percentage of mutant mitochondrial DNAs and severity of the biochemical defect, but there was a high concordance between clinical diagnosis of MELAS and transfer RNALeu(UUR) mutation.
Journal ArticleDOI
The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies
Patrizia D'Adamo,Lucia Fassone,Agi K. Gedeon,Emiel A. M. Janssen,Silvia Bione,Pieter A. Bolhuis,Peter G. Barth,Meredith Wilson,Eric Haan,Karen Helen Örstavik,Michael A. Patton,Andrew Green,Enrico Zammarchi,Maria Alice Donati,Daniela Toniolo +14 more
TL;DR: The sequence analysis of 11 additional familial cases is reported, which suggests that very severe phenotypes may be associated with null mutations in the gene, whereas mutations in alternative portions or missense mutations may give a "less severe" phenotype.
Journal ArticleDOI
Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase
Antonella Spinazzola,Ramon Martí,Ichizo Nishino,Antonio L. Andreu,Ali Naini,Saba Tadesse,Ivana Pela,Enrico Zammarchi,M. Alice Donati,Juan A. Oliver,Michio Hirano +10 more
TL;DR: Evidence is presented that thymidine metabolism is altered in MNGIE and it is hypothesize that excessThymidine alters mitochondrial nucleoside and nucleotide pools leading to impaired mitochondrial DNA replication, repair, or both.
Journal ArticleDOI
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis
Erik J. Bonten,Willem F. M. Arts,Michael Beck,A. Covanis,Maria Anna Donati,Rossella Parini,Enrico Zammarchi,Alessandra d'Azzo +7 more
TL;DR: The identification of eight novel mutations in the neuraminidase gene of 11 sialidosis patients with various degrees of disease penetrance explains the clinical heterogeneity observed in sIALidosis and may help in the assignment of existing or new allelic combinations to specific phenotypes.