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American Journal of Medical Genetics. Part A|February 24, 2011
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustatSimona Fecarotta, Michele Amitrano, Alfonso Romano, et al.Italian Journal of Pediatrics|March 21, 2014
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunityDaniela Melis, Roberto Della Casa, Francesca Balivo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2002
Spina bifida and folate-related genes: a study of gene-gene interactionsRaffaella de Franchis, Lorenzo D Botto, Gianfranco Sebastio, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2006
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspringIris Scala, Barbara Granese, Maria Sellitto, et al.European Journal of Human Genetics : EJHG|March 10, 2005
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intoleranceMaria P Sperandeo, Simona Paladino, Luigi Maiuri, et al.Gene|January 21, 2014
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 genePaolo Fontana, Rita Genesio, Alberto Casertano, et al.BMC Medical Genomics|July 9, 2013
Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndromeBarbara Granese, Iris Scala, Carmen Spatuzza, et al.Immunology|August 10, 2016
The contribution of the citrate pathway to oxidative stress in Down syndromePaolo Convertini, Alessio Menga, Generoso Andria, et al.Journal of Child Neurology|March 30, 2005
Study of multimodal evoked potentials in patients with type 1 Gaucher's diseaseAnna Perretti, Giancarlo Parenti, Pietro Balbi, et al.The Journal of Pediatrics|February 20, 2007
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type IDaniela Melis, Rosario Pivonello, Giancarlo Parenti, et al.Pageof 9