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Advances in Therapy|February 26, 2013
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiencyRoberto Cerone, Generoso Andria, Marcello Giovannini, et al.
European Respiratory Review : an Official Journal of the European Respiratory Society|December 3, 2013
Respiratory manifestations in patients with inherited metabolic diseasesFrancesca Santamaria, Silvia Montella, Virginia Mirra, et al.
Pediatric Blood & Cancer|August 19, 2014
Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithmMaja Di Rocco, Generoso Andria, Federica Deodato, et al.
Clinical Dysmorphology|December 1, 2005
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal originsDaniela Melis, Maria Pia Sperandeo, Lucia Perone, et al.
JIMD Reports|February 23, 2013
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophyGerarda Cappuccio, Nicola Brunetti-Pierri, Gaetano Terrone, et al.
Molecular Genetics and Metabolism|January 4, 2011
Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndromeVittoria Infantino, Alessandra Castegna, Francesco Iacobazzi, et al.
American Journal of Medical Genetics. Part A|February 28, 2003
A new patient with Lowry-Wood syndrome with mild phenotypeNicola Brunetti-Pierri, Daniele De Brasi, Shiro Ikegawa, et al.
Italian Journal of Pediatrics|November 20, 2012
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?Daniela Melis, Gerarda Cappuccio, Virginia Maria Ginocchio, et al.
Medicina Clinica|March 23, 2004
[Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants]María Luisa Martínez-Frías, Eva Bermejo, Elvira Rodríguez-Pinilla, et al.
Clinical Dysmorphology|December 17, 2004
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)Massimiliano Rossi, Daniele De Brasi, Christine M Hall, et al.
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