Search Results - "Bonapace, G"

Genetics and Gene Therapy in Hunter Disease by Sestito, S, Falvo, F, Scozzafava, C, Apa, R, Pensabene, L, Bonapace, G, Moricca, M T, Concolino, D

“…Mucopolysaccharidosis type II or Hunter syndrome is an X-linked lysosomal storage disease caused by a mutation in the gene encoding the lysosomal enzyme…”
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Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids by Concolino, D, Mascaro, I, Moricca, M T, Bonapace, G, Matalon, K, Trapasso, J, Radhakrishnan, G, Ferrara, C, Matalon, R, Strisciuglio, P

“…Background/Objectives: Phenylketonuria (PKU) is an autosomal recessive disease caused by deficient activity of phenylalanine hydroxylase. A low phenylalanine…”
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A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency by Bonapace, G, Concolino, D, Formicola, S, Strisciuglio, P

“…Recently, a partial deletion of the gene for IGF1, resulting in intrauterine growth failure plus severe post-natal growth retardation, sensorineural deafness,…”
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Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids by Concolino, D, Mascaro, I, Moricca, M T, Bonapace, G, Matalon, K, Trapasso, J, Radhakrishnan, G, Ferrara, C, Matalon, R, Strisciuglio, P

“…This corrects the article DOI: 10.1038/ejcn.2016.166…”
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Relative roles of endothelial cell damage and platelet activation in primary Raynaud's phenomenon (RP) and RP secondary to systemic sclerosis by Silveri, Rossella De Angelis, Andreina Poggi, Stefania Muti, Giuseppe Bonapace, Franco Argentati, Claudio Cervini, Ferdinando

“…Objective : To evaluate the relative roles of endothelium and platelets in the pathogenesis of primary RP and RP secondary to SSc. Methods : Endothelial…”
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Erratum: Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids by Concolino, D, Mascaro, I, Moricca, M T, Bonapace, G, Matalon, K, Trapasso, J, Radhakrishnan, G, Ferrara, C, Matalon, R, Strisciuglio, P

“…Correction to: European Journal of Clinical Nutrition (2017); 71 (1); 51-55; doi: 10.1038/ejcn.2016.166; published online 14th September 2016 Since the…”
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Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene by Guzzetta, V., Bonapace, G., Dianzani, I., Parenti, G., Lecora, M., Giannattasio, S., Concolino, D., Strisciuglio, P., Sebastio, G., Andria, G.

“…Phenylketonuria (PKU) is an autosomal recessive disease caused by the deficiency of a liver‐specific enzyme, phenylalanine hydroxylase (PAH). The pattern of…”
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Chemical Chaperones Protect from Effects of Apoptosis-Inducing Mutation in Carbonic Anhydrase IV Identified in Retinitis Pigmentosa 17 by Bonapace, Giuseppe, Waheed, Abdul, Shah, Gul N., Sly, William S.

“…Carbonic anhydrase (CA) IV is a glycosylphosphotidylinositol-anchored enzyme highly expressed on the plasma face of microcapillaries and especially strongly…”
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Apoptosis-Inducing Signal Sequence Mutation in Carbonic Anhydrase IV Identified in Patients with the RP17 Form of Retinitis Pigmentosa by Rebello, George, Ramesar, Rajkumar, Vorster, Alvera, Roberts, Lisa, Ehrenreich, Liezle, Oppon, Ekow, Gama, Dumisani, Bardien, Soraya, Greenberg, Jacquie, Bonapace, Giuseppe, Waheed, Abdul, Shah, Gul N., Sly, William S.

“…Genetic and physical mapping of the RP17 locus on 17q identified a 3.6-megabase candidate region that includes the gene encoding carbonic anhydrase IV (CA4), a…”
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Cytosolic carbonic anhydrase activity in chronic myeloid disorders with different clinical phenotype by Bonapace, Giuseppe, Iuliano, Francesco, Molica, Stefano, Peta, Antonio, Strisciuglio, Pietro

“…Carbonic anhydrase family (CAs) plays an important role in the extracellular acidification and several studies suggest a possible involvement of such enzymes…”
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Successful DNA-based prenatal diagnosis of the 728+1 g→t mutation at the exon 6-intron 6 junction in the carbonic anhydrase II gene by Islam, M. Rafiq, Strisciuglio, Pietro, Bonapace, Giuseppe, Sly, William S.

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A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency by Bonapace, G, Concolino, D, micola, S, Strisciuglio, P

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Successful DNA-based prenatal diagnosis of the 728+1 g-->t mutation at the exon 6-intron 6 junction in the carbonic anhydrase II gene by Islam, M R, Strisciuglio, P, Bonapace, G, Sly, W S

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