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American Journal of Medical Genetics. Part A|February 5, 2003
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variabilityNicola Brunetti-Pierri, Maria Vittoria Andreucci, Rosaria Tuzzi, et al.
The Journal of Pediatrics|February 3, 2015
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian studyDaniela Melis, Mariarosaria Cozzolino, Giorgia Minopoli, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature reviewGerarda Cappuccio, Rita Genesio, Valentina Ronga, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|September 20, 2012
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteineCaterina Porto, Maria C Ferrara, Massimiliano Meli, et al.
JIMD Reports|July 1, 2015
Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type IbDaniela Melis, Giorgia Minopoli, Francesca Balivo, et al.
Seminars in Hematology|October 7, 2004
Therapeutic goals in the treatment of Gaucher diseaseGregory M Pastores, Neal J Weinreb, Hans Aerts, et al.
American Journal of Human Genetics|August 22, 2002
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturaseNicola Brunetti-Pierri, Gaetano Corso, Massimiliano Rossi, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Clinical phenotype of lathosterolosisMassimiliano Rossi, Maria D'Armiento, Ida Parisi, et al.
Epigenetics|September 21, 2011
Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotypeRita Genesio, Daniela Melis, Sole Gatto, et al.
American Journal of Medical Genetics|July 13, 2002
Unbalanced translocation (3;5)(q26.1;p14): a clinical reportMassimiliano Rossi, Pasqua Di Micco, Lucia Perone, et al.
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