International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Authors: Muntau, Ania C., Adams, Darius J., Bélanger-Quintana, Amaya, Bushueva, Tatiana V., Cerone, Roberto, Chien, Yin-Hsiu, Chiesa, Ana, Coşkun, Turgay, de las Heras, Javier, Feillet, François, Katz, Rachel, Lagler, Florian, Piazzon, Flavia, Rohr, Fran, van Spronsen, Francjan J., Vargas, Paula, Wilcox, Gisela, Bhattacharya, Kaustuv

Source: In Molecular Genetics and Metabolism May 2019 127(1):1-11

Newborn screening for homocystinurias: Recent recommendations versus current practice

Authors: Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi‐Vici, Carlo, Gleich, Florian, Morris, Andrew A., Kožich, Viktor, Huemer, Martina, Barić, Ivo, Ben‐Omran, Tawfeq, Blasco‐Alonso, Javier, Bueno Delgado, Maria A., Carducci, Claudia, Cassanello, Michela, Cerone, Roberto, Couce, Maria Luz, Crushell, Ellen, Delgado Pecellin, Carmen, Dulin, Elena, Espada, Mercedes, Ferino, Giulio, Fingerhut, Ralph, Garcia Jimenez, Immaculada, Gonzalez Gallego, Immaculada, González‐Irazabal, Yolanda, Gramer, Gwendolyn, Juan Fita, Maria Jesus, Karg, Eszter, Klein, Jeanette, Konstantopoulou, Vassiliki, la Marca, Giancarlo, Leão Teles, Elisa, Leuzzi, Vincenzo, Lilliu, Franco, Lopez, Rosa Maria, Lund, Allan M., Mayne, Philip, Meavilla, Silvia, Moat, Stuart J., Okun, Jürgen G., Pasquini, Elisabeta, Pedron‐Giner, Consuélo Carmen, Racz, Gabor Zoltan, Ruiz Gomez, Maria Angeles, Vilarinho, Laura, Yahyaoui, Raquel, Zerjav Tansek, Moja, Zetterström, Rolf H., Zeyda, Maximilian

Source: Journal of inherited metabolic disease. 42(1):128-139

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087697002.0x000001&indx=1&recIds=ETOCvdc_100087697002.0x000001

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Authors: Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi‐Vici, Carlo, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco‐Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A., Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana Maria, Gautschi, Matthias, González‐Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C. H., Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M., Martins, Esmeralda G., Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stephanie, Pedrón‐Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James

Source: Journal of inherited metabolic disease. 42(2):333-352

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083720108.0x000001&indx=1&recIds=ETOCvdc_100083720108.0x000001

Why do premature newborn infants display elevated blood adenosine levels?

Authors: Panfoli, Isabella, Cassanello, Michela, Bruschettini, Matteo, Colella, Marina, Cerone, Roberto, Ravera, Silvia, Calzia, Daniela, Candiano, Giovanni, Ramenghi, Luca

Source: In Medical Hypotheses May 2016 90:53-56

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening

Authors: Arnold, Georgianne L., Salazar, Denise, Neidich, Julie A., Suwannarat, Pim, Graham, Brett H., Lichter-Konecki, Uta, Bosch, Annet M., Cusmano-Ozog, Kristina, Enns, Greg, Wright, Erica L., Lanpher, Brendan C., Owen, Natalie N., Lipson, Mark H., Cerone, Roberto, Levy, Paul, Wong, Lee-Jun C., Dezsofi, Antal

Source: In Molecular Genetics and Metabolism August 2012 106(4):439-441

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Authors: Marini, Monica, Bocciardi, Renata, Gimelli, Stefania, Di Duca, Marco, Divizia, Maria T., Baban, Anwar, Gaspar, Harald, Mammi, Isabella, Garavelli, Livia, Cerone, Roberto, Emma, Francesco, Bedeschi, Maria F., Tenconi, Romano, Sensi, Alberto, Salmaggi, Andrea, Bengala, Mario, Mari, Francesca, Colussi, Gianluca, Szczaluba, Krzysztof, Antonarakis, Stylianos E., Seri, Marco, Lerone, Margherita, Ravazzolo, Roberto ^*

Source: In Genetics in Medicine July 2010 12(7):431-439

Mutations and Phenotypes In Dihydropteridine Reductase Deficiency in Italy

Authors: de Sanctis Luisa, Alliaudi Carla, Spada Marco, Cerone Roberto, Biasucci Giacomo, Blau Nenad, Ponzone Alberto, Dianzani Irma

Source: Pteridines, Vol 7, Iss 3, Pp 103-106 (1996)

Subject Terms: Crystallography, QD901-999

File Description: electronic resource

Relation: https://doaj.org/toc/0933-4807; https://doaj.org/toc/2195-4720

Access URL: https://doaj.org/article/705da4d26b5d411d9873028b1c14ce93

Storage and use of residual newborn screening dot blood samples in Italy

Authors: D'Agnolo Giuliano, Cerone Roberto, Corbetta Carlo, Olivieri Antonella, Petrini Carlo, Bompiani Adriano

Source: Italian Journal of Pediatrics, Vol 37, Iss 1, p 25 (2011)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.ijponline.net/content/37/1/25; https://doaj.org/toc/1720-8424; https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/4b5fb77bf6ec4e87b8cd07858d40236a

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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Authors: Nogueira, Célia, Aiello, Chiara, Cerone, Roberto, Martins, Esmeralda, Caruso, Ubaldo, Moroni, Isabella, Rizzo, Cristiano, Diogo, Luísa, Leão, Elisa, Kok, Fernando, Deodato, Federica, Schiaffino, Maria Cristina, Boenzi, Sara, Danhaive, Olivier, Barbot, Clara, Sequeira, Sílvia, Locatelli, Mattia, Santorelli, Filippo M., Uziel, Graziella, Vilarinho, Laura, Dionisi-Vici, Carlo

Source: In Molecular Genetics and Metabolism 2008 93(4):475-480

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Homocysteine, folate, vitamin B[sub 12] levels, and C677T MTHFR mutation in children with renal failure.

Authors: Canepa, Alberto, Carrea, Alba, Caridi, Gianluca, Dertenois, Laura, Minniti, Giuseppe, Cerone, Roberto, Canini, Silvana, Calevo, Maria Grazia, Perfumo, Francesco

Source: Pediatric Nephrology; Mar2003, Vol. 18 Issue 3, p225, 5p

Subject Terms: CHRONIC kidney failure, HOMOCYSTEINE, FOLIC acid, VITAMIN B12

Early-onset Cobalamin C/D Deficiency: Epilepsy and Electroencephalographic Features.

Authors: Biancheri, Roberta^1,2, Cerone, Roberto³, Rossi, Andrea², Schiaffino, Maria Cristina³, Caruso, Ubaldo³, Minniti, Giuseppe³, Perrone, Maria Viviana⁴, Tortori-Donati, Paolo², Veneselli, Edvige⁴

Source: Epilepsia (Series 4). Jun2002, Vol. 43 Issue 6, p616-622. 7p.

Subject Terms: *VITAMIN B12 deficiency, *EPILEPSY, *PHYSIOLOGY

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.

Authors: Luka, Zigmund, Cerone, Roberto, Phillips, John A., Mudd, Harvey S., Wagner, Conrad

Source: Human Genetics; Jan2002, Vol. 110 Issue 1, p68-74, 7p

Subject Terms: METHYLATION, GLYCINE, GENETIC mutation, METHYLTRANSFERASES, METHIONINE, METABOLISM, AMINO acid neurotransmitters

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

Authors: Rüetschi, Ulla, Cerone, Roberto, Pérez-Cerda, Celia, Schiaffino, Maria Cristina, Standing, Sue, Ugarte, Magdalena, Holme, Elisabeth

Source: Human Genetics; Jun2000, Vol. 106 Issue 6, p654-662, 9p

Subject Terms: GENETIC mutation, TYROSINE in the body, ENZYMES, METABOLITES, INTELLECTUAL disabilities, HUMAN genetics

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Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

Authors: Dianzani, Irma, Devoto, Marcella, Camaschella, Clara, Saglio, Giuseppe, Ferrero, Giovanni, Cerone, Roberto, Romano, Cesare, Romeo, Giovanni, Giovannini, Marcello, Riva, Enrica, Angeneydt, Frank, Trefz, Friedrich, Okano, Yoshiyuki, Woo, Savio

Source: Human Genetics; 1990, Vol. 86 Issue 1, p69-72, 4p