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The FEBS Journal|March 19, 2009
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern ItalyAurora Daniele, Iris Scala, Giuseppe Cardillo, et al.
Journal of Child Neurology|August 11, 2007
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cellsMassimiliano Rossi, Giancarlo Parenti, Roberto Della Casa, et al.
European Journal of Medical Genetics|August 7, 2010
An emerging phenotype of proximal 11q deletionsDaniela Melis, Rita Genesio, Mariarosaria Cozzolino, et al.
Journal of Immunology (Baltimore, Md. : 1950)|April 9, 2017
Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell FunctionDaniela Melis, Fortunata Carbone, Giorgia Minopoli, et al.
The FEBS Journal|September 26, 2007
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndromePatrizia Galletti, Maria Luigia De Bonis, Alvara Sorrentino, et al.
The Journal of Pediatrics|December 22, 2009
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1bDaniela Melis, Rosario Pivonello, Giancarlo Parenti, et al.
Italian Journal of Pediatrics|April 14, 2016
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variantsGerarda Cappuccio, Francesco Vitiello, Alberto Casertano, et al.
American Journal of Medical Genetics. Part A|March 13, 2012
Clinical description of a patient carrying the smallest reported deletion involving 10p14 regionDaniela Melis, Rita Genesio, Pasquale Boemio, et al.
American Journal of Physiology. Cell Physiology|March 23, 2007
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intoleranceMaria Pia Sperandeo, Patrizia Annunziata, Andrea Bozzato, et al.
European Journal of Pediatrics|May 21, 2005
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literatureDaniela Melis, Rossella Fulceri, Giancarlo Parenti, et al.
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