المؤلفون: Parenti G., Fecarotta S., Alagia M., Attaianese F., Verde A., Tarallo A., Gragnaniello V., Ziagaki A., Guimaraes M. J., Aguiar P., Hahn A., Azevedo O., Donati M. A., Kiec-Wilk B., Scarpa M., van der Beek N. A. M. E., Del Toro Riera M., Germain D. P., Huidekoper H., van den Hout J. M. P., van der Ploeg A. T., Zeman J., Witters P., Weinhold N., Vijay S., van Hasselt P. M., Ullrich K., Tournev I., Salviati A., Rutsch F., Roland D., Rokicki D., Rodrigues E., Pfliegler G., Miclea D., Martins E., Martin-Hernandez E., Komninaka V., Kingma S., Jones S., Hiwot T. G., Hennermann J., Guffon-Fouilhoux N., Grosso S., Lopez A. G. -M., Gasperini S., Gaspar A. M., Ferreira A., Eyskens F., Dobbelaere D., Di Rocco M., De Las Heras Montero J., de Abreu Freire Diogo Matos L. M., Deegan P., Debray F. G., Das A. M., Darin N., Couce-Pico M. L., Chronopoulou E., Chabrol B., Cassiman D., Burlina A., Brassier A., Bosch A. M., Bordugo A., Belmatoug N., Batzios S., Baric I.

المساهمون: Parenti, G., Fecarotta, S., Alagia, M., Attaianese, F., Verde, A., Tarallo, A., Gragnaniello, V., Ziagaki, A., Guimaraes, M. J., Aguiar, P., Hahn, A., Azevedo, O., Donati, M. A., Kiec-Wilk, B., Scarpa, M., van der Beek, N. A. M. E., Del Toro Riera, M., Germain, D. P., Huidekoper, H., van den Hout, J. M. P., van der Ploeg, A. T., Zeman, J., Witters, P., Weinhold, N., Vijay, S., van Hasselt, P. M., Ullrich, K., Tournev, I., Salviati, A., Rutsch, F., Roland, D., Rokicki, D., Rodrigues, E., Pfliegler, G., Miclea, D., Martins, E., Martin-Hernandez, E., Komninaka, V., Kingma, S., Jones, S., Hiwot, T. G., Hennermann, J., Guffon-Fouilhoux, N., Grosso, S., Lopez, A. G. -M., Gasperini, S., Gaspar, A. M., Ferreira, A., Eyskens, F., Dobbelaere, D., Di Rocco, M., De Las Heras Montero, J., de Abreu Freire Diogo Matos, L. M., Deegan, P., Debray, F. G., Das, A. M., Darin, N., Couce-Pico, M. L., Chronopoulou, E., Chabrol, B., Cassiman, D., Burlina, A., Brassier, A., Bosch, A. M., Bordugo, A., Belmatoug, N., Batzios, S., Baric, I.

مصطلحات موضوعية: Acid alpha-glucosidase deficiency, Acid maltase deficiency, Glycogen storage disease (GSD) type II, Lysosomal storage disease, Pompe disease

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001346304100001; volume:19; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11588/989628

الاتاحة: https://hdl.handle.net/11588/989628
https://doi.org/10.1186/s13023-024-03373-w

المؤلفون: Gragnaniello V., Gueraldi D., Puma A., Commone A., Cazzorla C., Loro C., Porcu E., Stornaiuolo M., Miglioranza P., Salviati L., Wanders R. J. A., Burlina A.

المساهمون: Gragnaniello, V., Gueraldi, D., Puma, A., Commone, A., Cazzorla, C., Loro, C., Porcu, E., Stornaiuolo, M., Miglioranza, P., Salviati, L., Wanders, R. J. A., Burlina, A.

مصطلحات موضوعية: Antioxidant, Autophagy, JNK, LC3, Mitogen-activated protein kinases (MAPKs), Oxidative stre, Peroxisomal disorder, X-linked adrenoleukodystrophy, Zellweger spectrum disorder, p38

Relation: info:eu-repo/semantics/altIdentifier/pmid/37974207; info:eu-repo/semantics/altIdentifier/wos/WOS:001107154800006; volume:18; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11577/3512607; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85176958551

الاتاحة: https://hdl.handle.net/11577/3512607
https://doi.org/10.1186/s13023-023-02940-x

المؤلفون: Maines E., Moretti M., Vitturi N., Gugelmo G., Fasan I., Lenzini L., Piccoli G., Gragnaniello V., Maiorana A., Soffiati M., Burlina A., Franceschi R.

المساهمون: Maines, E., Moretti, M., Vitturi, N., Gugelmo, G., Fasan, I., Lenzini, L., Piccoli, G., Gragnaniello, V., Maiorana, A., Soffiati, M., Burlina, A., Franceschi, R.

مصطلحات موضوعية: propionic acidemia, cardiomyopathy, long QT syndrome, pathogenesi, review

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000983163500001; volume:13; issue:4; journal:METABOLITES; https://hdl.handle.net/11577/3501346; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153748900

الاتاحة: https://hdl.handle.net/11577/3501346
https://doi.org/10.3390/metabo13040563

المؤلفون: Maines E., Franceschi R., Rizzardi C., Deodato F., Piccoli G., Gragnaniello V., Burlina A., Soffiati M.

المساهمون: Maines, E., Franceschi, R., Rizzardi, C., Deodato, F., Piccoli, G., Gragnaniello, V., Burlina, A., Soffiati, M.

مصطلحات موضوعية: Acid sphingomyelinase deficiency, Case report, Dyslipidemia, Lipid abnormalitie, Management, Niemann-Pick disease type B, Review

Relation: info:eu-repo/semantics/altIdentifier/pmid/35181260; info:eu-repo/semantics/altIdentifier/wos/WOS:000793357500004; volume:16; issue:2; firstpage:143; lastpage:154; numberofpages:12; journal:JOURNAL OF CLINICAL LIPIDOLOGY; https://hdl.handle.net/11577/3540556

الاتاحة: https://hdl.handle.net/11577/3540556
https://doi.org/10.1016/j.jacl.2022.01.008

المؤلفون: Gragnaniello V., Deodato F., Gasperini S., Donati M. A., Canessa C., Fecarotta S., Pascarella A., Spadaro G., Concolino D., Burlina A., Parenti G., Strisciuglio P., Fiumara A., Casa R. D.

المساهمون: Gragnaniello, V., Deodato, F., Gasperini, S., Donati, M. A., Canessa, C., Fecarotta, S., Pascarella, A., Spadaro, G., Concolino, D., Burlina, A., Parenti, G., Strisciuglio, P., Fiumara, A., Casa, R. D.

مصطلحات موضوعية: CRIM statu, Desensitization, Immune tolerance induction, Infusion associated reaction, Pompe disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/35248118; info:eu-repo/semantics/altIdentifier/wos/WOS:000764987900001; volume:48; issue:1; firstpage:41; journal:THE ITALIAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/11577/3472437; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125864943

الاتاحة: https://hdl.handle.net/11577/3472437
https://doi.org/10.1186/s13052-022-01219-4

المؤلفون: Gragnaniello V., Burlina A. P., Polo G., Giuliani A., Salviati L., Duro G., Cazzorla C., Rubert L., Maines E., Germain D. P., Burlina A. B.

المساهمون: Gragnaniello, V., Burlina, A. P., Polo, G., Giuliani, A., Salviati, L., Duro, G., Cazzorla, C., Rubert, L., Maines, E., Germain, D. P., Burlina, A. B.

مصطلحات موضوعية: Dried blood spot, Fabry disease, GLA gene, Globotriaosylsphingosine, Lyso-Gb3, Newborn screening, Second tier test, Tandem mass spectrometry, Variant interpretation, α-galactosidase A, Dried Blood Spot Testing, Female, Follow-Up Studie, Glycolipid, Human, Infant, Newborn, Italy, Male, Neonatal Screening, Sphingolipid, Time Factor, alpha-Galactosidase

Relation: info:eu-repo/semantics/altIdentifier/pmid/34199132; info:eu-repo/semantics/altIdentifier/wos/WOS:000676241400001; volume:11; issue:7; firstpage:951; journal:BIOMOLECULES; http://hdl.handle.net/11577/3443137; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108640010

الاتاحة: http://hdl.handle.net/11577/3443137
https://doi.org/10.3390/biom11070951

المؤلفون: Burlina Alberto, Giuliani A, Polo G, Gueraldi D, Gragnaniello V, Cazzorla C, Opladen T, Hoffmann G, Blau N, Burlina AP.

المساهمون: Burlina, Alberto, Giuliani, A, Polo, G, Gueraldi, D, Gragnaniello, V, Cazzorla, C, Opladen, T, Hoffmann, G, Blau, N, Burlina, Ap.

مصطلحات موضوعية: 3-O-methyldopa, AADC deficiency, Aromatic L-amino acid decarboxylase deficiency, Dried blood spot, Neurotransmitter disorder, Newborn screening

Relation: info:eu-repo/semantics/altIdentifier/pmid/33744095; info:eu-repo/semantics/altIdentifier/wos/WOS:000642261500005; volume:133; issue:1; firstpage:56; lastpage:62; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11577/3473088; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102872559

الاتاحة: https://hdl.handle.net/11577/3473088
https://doi.org/10.1016/j.ymgme.2021.03.009

المؤلفون: Gragnaniello V, Burlina AP, Polo G, Giuliani A, Salviati L, Duro G, Cazzorla C, Rubert L, Maines E, Germain DP, Burlina Alberto

المساهمون: Gragnaniello, V, Burlina, Ap, Polo, G, Giuliani, A, Salviati, L, Duro, G, Cazzorla, C, Rubert, L, Maines, E, Germain, Dp, Burlina, Alberto

Relation: journal:BIOMOLECULES; https://hdl.handle.net/11577/3473093

الاتاحة: https://hdl.handle.net/11577/3473093

المؤلفون: Gragnaniello, V., Fecarotta, S., Pecoraro, A., Tarallo, A., CATZOLA, ANDREA, Spadaro, G., Parenti, G., Della Casa, R.

المساهمون: Gragnaniello, V., Fecarotta, S., Pecoraro, A., Tarallo, A., Catzola, Andrea, Spadaro, G., Parenti, G., Della Casa, R.

مصطلحات موضوعية: Acid alpha-glucosidase, Associated reaction, Desensitization, Enzyme replacement therapy, Infusion, Pompe disease, Neurology (clinical), Psychiatry and Mental Health

Time: 2708

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000471975100017; volume:40; issue:7; firstpage:1453; lastpage:1455; numberofpages:3; journal:NEUROLOGICAL SCIENCES; http://hdl.handle.net/11588/752255; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85061751286; https://link.springer.com/journal/10072

الاتاحة: http://hdl.handle.net/11588/752255
https://doi.org/10.1007/s10072-019-03744-3
https://link.springer.com/journal/10072

المؤلفون: Fecarotta, S., Gragnaniello, V., Della Casa, R., Romano, A., Raiano, E., Torella, A., Savarese, M., Nigro, V., Strisciuglio, P., Andria, G., Parenti, G.

المساهمون: Fecarotta, S., Gragnaniello, V., Della Casa, R., Romano, A., Raiano, E., Torella, A., Savarese, M., Nigro, V., Strisciuglio, P., Andria, G., Parenti, G.

مصطلحات موضوعية: Alpha-dystroglycanopathy, Congenital muscular dystrophy, Corticosteroid therapy, GMPPB, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical)

Relation: info:eu-repo/semantics/altIdentifier/pmid/30126629; info:eu-repo/semantics/altIdentifier/wos/WOS:000453497300008; volume:28; issue:11; firstpage:956; lastpage:960; numberofpages:5; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11591/403211; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85051649584; www.elsevier.com/locate/nmd

الاتاحة: http://hdl.handle.net/11591/403211
https://doi.org/10.1016/j.nmd.2018.07.001

المؤلفون: Della Ragione, F, Oliva, A, Gragnaniello, V, Russo, G L, Palumbo, R, Zappia, V

المصدر: Journal of Biological Chemistry ; volume 265, issue 11, page 6241-6246 ; ISSN 0021-9258

الاتاحة: http://dx.doi.org/10.1016/s0021-9258(19)39316-0
https://api.elsevier.com/content/article/PII:S0021925819393160?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0021925819393160?httpAccept=text/plain

المؤلفون: VALSIGLIO A, DANGELI A, CEROTTO A, PERROTTA A, BORRELLI I, LAMBERTI, Monica, ESPOSITO G, GRAGNANIELLO V, SANNOLO, Nicola

المساهمون: Valsiglio, A, Dangeli, A, Cerotto, A, Perrotta, A, Borrelli, I, Lamberti, Monica, Esposito, G, Gragnaniello, V, Sannolo, Nicola

Relation: ispartofbook:ATTI DELLE GIORNATE SCIENTIFICHE DI ATENEO; Giornate Scientifiche della facoltà di Medicina e Chirurgia, S.U.N. Napoli; volume:1; firstpage:382; lastpage:383; numberofpages:2; http://hdl.handle.net/11591/207169

الاتاحة: http://hdl.handle.net/11591/207169

المؤلفون: GRAGNANIELLO V, QUARANTA M, FERRIERO M, PERROTTA A, ESPOSITO G, SANNOLO, Nicola

المساهمون: Gragnaniello, V, Quaranta, M, Ferriero, M, Perrotta, A, Esposito, G, Sannolo, Nicola

Relation: ispartofbook:Atti delle Giornate Scientifiche di Ateneo; Giornate Scientifiche della Facoltà di Medicina; http://hdl.handle.net/11591/207167

الاتاحة: http://hdl.handle.net/11591/207167

المؤلفون: GRAGNANIELLO V, PERROTA A., QUARANTA G, SORRENTINO M, ESPOSITO G, GIANELLO G, DE SATA C, LIOTTI F, SANNOLO, Nicola

المساهمون: Gragnaniello, V, Perrota, A., Quaranta, G, Sorrentino, M, Esposito, G, Gianello, G, DE SATA, C, Liotti, F, Sannolo, Nicola

Relation: volume:71 (suppl); firstpage:111; lastpage:116; numberofpages:6; journal:FOLIA MEDICA; http://hdl.handle.net/11591/232405

الاتاحة: http://hdl.handle.net/11591/232405

المؤلفون: MOSCARIELLO C, ACAMPORA A, PERROTTA A, ESPOSITO G, GRAGNANIELLO V, SANNOLO, Nicola

المساهمون: Moscariello, C, Acampora, A, Perrotta, A, Esposito, G, Gragnaniello, V, Sannolo, Nicola

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3977::6e707c23a6f847e045b2c9ef5968e2e4
http://hdl.handle.net/11591/177539

المؤلفون: GRAGNANIELLO V, SCHIANO DI ZENISE PIA, FERRIERO M, PERROTTA A, ESPOSITO G, QUARANTA G, DEL PIANO M, SESSA R, SANTINO I, GUZZI A, LIOTTI F, SANNOLO, Nicola

المساهمون: Gragnaniello, V, SCHIANO DI ZENISE, Pia, Ferriero, M, Perrotta, A, Esposito, G, Quaranta, G, DEL PIANO, M, Sessa, R, Santino, I, Guzzi, A, Liotti, F, Sannolo, Nicola

Relation: volume:69; firstpage:769; lastpage:774; numberofpages:6; journal:FOLIA MEDICA; http://hdl.handle.net/11591/231734

الاتاحة: http://hdl.handle.net/11591/231734

المؤلفون: DELLA RAGIONE, Fulvio, OLIVA, Adriana, PALUMBO R, RUSSO GL, GRAGNANIELLO V, ZAPPIA V.

المساهمون: DELLA RAGIONE, Fulvio, Oliva, Adriana, Palumbo, R, Russo, Gl, Gragnaniello, V, Zappia, V.

Relation: info:eu-repo/semantics/altIdentifier/pmid/1736901; info:eu-repo/semantics/altIdentifier/wos/WOS:A1992HB61500037; volume:281; firstpage:533; lastpage:538; journal:BIOCHEMICAL JOURNAL; http://hdl.handle.net/11591/191703; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0026526721

الاتاحة: http://hdl.handle.net/11591/191703

المؤلفون: DELLA RAGIONE, Fulvio, OLIVA, Adriana, GRAGNANIELLO V, RUSSO GL, PALUMBO R, ZAPPIA V.

المساهمون: DELLA RAGIONE, Fulvio, Oliva, Adriana, Gragnaniello, V, Russo, Gl, Palumbo, R, Zappia, V.

Relation: info:eu-repo/semantics/altIdentifier/pmid/2108157; info:eu-repo/semantics/altIdentifier/wos/WOS:A1990CY58700053; volume:265; firstpage:6241; lastpage:6246; journal:THE JOURNAL OF BIOLOGICAL CHEMISTRY; http://hdl.handle.net/11591/191605; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0025241031

الاتاحة: http://hdl.handle.net/11591/191605

المؤلفون: Della Ragione, F, Cartenì-Farina, M, Gragnaniello, V, Schettino, M I, Zappia, V

المصدر: Journal of Biological Chemistry ; volume 261, issue 26, page 12324-12329 ; ISSN 0021-9258

الاتاحة: http://dx.doi.org/10.1016/s0021-9258(18)67242-4
https://api.elsevier.com/content/article/PII:S0021925818672424?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0021925818672424?httpAccept=text/plain

المؤلفون: Della Ragione, F, Oliva, A, Palumbo, R, Russo, G L, Gragnaniello, V, Zappia, V

المصدر: Biochemical Journal ; volume 281, issue 2, page 533-538 ; ISSN 0264-6021 1470-8728

الاتاحة: http://dx.doi.org/10.1042/bj2810533
https://portlandpress.com/biochemj/article-pdf/281/2/533/605876/bj2810533.pdf