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119 results for Burlina,+Alberto

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Phenylketonuria
Author / Creator:van Spronsen, Francjan J. ; Blau, Nenad ; Harding, Cary ; Burlina, Alberto ; Longo, Nicola ; Bosch, Annet M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2021-05, Vol.7 (1), p.36-36, Article 36
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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Author / Creator:Burlina, Alberto B. ; Polo, Giulia ; Salviati, Leonardo ; Duro, Giovanni ; Zizzo, Carmela ; Dardis, Andrea ; Bembi, Bruno ; Cazzorla, Chiara ; Rubert, Laura ; Zordan, Roberta ; Desnick, Robert J. ; Burlina, Alessandro P.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-03, Vol.41 (2), p.209-219
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Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients
Author / Creator:Burlina, Alessandro P. ; Manara, Renzo ; Carretta, Jessica ; Cazzorla, Chiara ; Loro, Christian ; Gragnaniello, Vincenza ; Burlina, Alberto B.
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-12, Vol.31 (12), p.e16508-n/a
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Author / Creator:Huemer, Martina ; Diodato, Daria ; Schwahn, Bernd ; Schiff, Manuel ; Bandeira, Anabela ; Benoist, Jean-Francois ; Burlina, Alberto ; Cerone, Roberto ; Couce, Maria L. ; Garcia-Cazorla, Angeles ; la Marca, Giancarlo ; Pasquini, Elisabetta ; Vilarinho, Laura ; Weisfeld-Adams, James D. ; Kožich, Viktor ; Blom, Henk ; Baumgartner, Matthias R. ; Dionisi-Vici, Carlo
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.21-48
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Author / Creator:Kölker, Stefan ; Valayannopoulos, Vassili ; Burlina, Alberto B. ; Sykut-Cegielska, Jolanta ; Wijburg, Frits A. ; Teles, Elisa Leão ; Zeman, Jiri ; Dionisi-Vici, Carlo ; Barić, Ivo ; Karall, Daniela ; Arnoux, Jean-Baptiste ; Avram, Paula ; Baumgartner, Matthias R. ; Blasco-Alonso, Javier ; Boy, S. P. Nikolas ; Rasmussen, Marlene Bøgehus ; Burgard, Peter ; Chabrol, Brigitte ; Chakrapani, Anupam ; Chapman, Kimberly ; Cortès i Saladelafont, Elisenda ; Couce, Maria L. ; de Meirleir, Linda ; Dobbelaere, Dries ; Furlan, Francesca ; Gleich, Florian ; González, Maria Julieta ; Gradowska, Wanda ; Grünewald, Stephanie ; Honzik, Tomas ; Hörster, Friederike ; Ioannou, Hariklea ; Jalan, Anil ; Häberle, Johannes ; Haege, Gisela ; Langereis, Eveline ; de Lonlay, Pascale ; Martinelli, Diego ; Matsumoto, Shirou ; Mühlhausen, Chris ; Murphy, Elaine ; de Baulny, Hélène Ogier ; Ortez, Carlos ; Pedrón, Consuelo C. ; Pintos-Morell, Guillem ; Pena-Quintana, Luis ; Ramadža, Danijela Petković ; Rodrigues, Esmeralda ; Scholl-Bürgi, Sabine ; Sokal, Etienne ; Summar, Marshall L. ; Thompson, Nicholas ; Vara, Roshni ; Pinera, Inmaculada Vives ; Walter, John H. ; Williams, Monique ; Lund, Allan M. ; Garcia Cazorla, Angeles
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1059-1074
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Suggested guidelines for the diagnosis and management of urea cycle disorders
Author / Creator:Häberle, Johannes ; Boddaert, Nathalie ; Burlina, Alberto ; Chakrapani, Anupam ; Dixon, Marjorie ; Huemer, Martina ; Karall, Daniela ; Martinelli, Diego ; Crespo, Pablo ; Santer, René ; Servais, Aude ; Valayannopoulos, Vassili ; Lindner, Martin ; Rubio, Vicente ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-05, Vol.7 (1), p.32-32
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Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
Author / Creator:Bosch, Annet M ; Burlina, Alberto ; Cunningham, Amy ; Bettiol, Esther ; Moreau-Stucker, Flavie ; Koledova, Ekaterina ; Benmedjahed, Khadra ; Regnault, Antoine
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.80-80, Article 80
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The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria
Author / Creator:Burlina, Alessandro P. ; Cazzorla, Chiara ; Massa, Pamela ; Loro, Christian ; Gueraldi, Daniela ; Burlina, Alberto B.
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2020-07, Vol.12 (7), p.2078
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Newborn screening in mucopolysaccharidoses
Author / Creator:Donati, Maria Alice ; Pasquini, Elisabetta ; Spada, Marco ; Polo, Giulia ; Burlina, Alberto
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2018-11, Vol.44 (S2), p.126-126, Article 126
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Diagnosis and management of glutaric aciduria type I – revised recommendations
Author / Creator:Kölker, Stefan ; Christensen, Ernst ; Leonard, James V. ; Greenberg, Cheryl R. ; Boneh, Avihu ; Burlina, Alberto B. ; Burlina, Alessandro P. ; Dixon, Marjorie ; Duran, Marinus ; García Cazorla, Angels ; Goodman, Stephen I. ; Koeller, David M. ; Kyllerman, Mårten ; Mühlhausen, Chris ; Müller, Edith ; Okun, Jürgen G. ; Wilcken, Bridget ; Hoffmann, Georg F. ; Burgard, Peter
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.677-694
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Health-related quality of life in a european sample of adults with early-treated classical PKU
Author / Creator:Maissen-Abgottspon, Stephanie ; Muri, Raphaela ; Hochuli, Michel ; Reismann, Péter ; Barta, András Gellért ; Alptekin, Ismail Mucahit ; Hermida-Ameijeiras, Álvaro ; Burlina, Alessandro P. ; Burlina, Alberto B. ; Cazzorla, Chiara ; Carretta, Jessica ; Trepp, Roman ; Everts, Regula
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-09, Vol.18 (1), p.1-12, Article 300
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International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Author / Creator:Welling, Lindsey ; Bernstein, Laurie E. ; Berry, Gerard T. ; Burlina, Alberto B. ; Eyskens, François ; Gautschi, Matthias ; Grünewald, Stephanie ; Gubbels, Cynthia S. ; Knerr, Ina ; Labrune, Philippe ; van der Lee, Johanna H. ; MacDonald, Anita ; Murphy, Elaine ; Portnoi, Pat A. ; Õunap, Katrin ; Potter, Nancy L. ; Rubio-Gozalbo, M. Estela ; Spencer, Jessica B. ; Timmers, Inge ; Treacy, Eileen P. ; Van Calcar, Sandra C. ; Waisbren, Susan E. ; Bosch, Annet M.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.171-176
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Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy
Author / Creator:Viscomi, Carlo ; Burlina, Alberto B ; Dweikat, Imad ; Savoiardo, Mario ; Lamperti, Costanza ; Hildebrandt, Tatjana ; Tiranti, Valeria ; Zeviani, Massimo
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2010-08, Vol.16 (8), p.869-871
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Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience
Author / Creator:Gragnaniello, Vincenza ; Burlina, Alessandro P ; Polo, Giulia ; Giuliani, Antonella ; Salviati, Leonardo ; Duro, Giovanni ; Cazzorla, Chiara ; Rubert, Laura ; Maines, Evelina ; Germain, Dominique P ; Burlina, Alberto B
Publisher:Basel: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2021-06, Vol.11 (7), p.951
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Italian national consensus statement on management and pharmacological treatment of phenylketonuria
Author / Creator:Burlina, Alberto ; Biasucci, Giacomo ; Carbone, Maria Teresa ; Cazzorla, Chiara ; Paci, Sabrina ; Pochiero, Francesca ; Spada, Marco ; Tummolo, Albina ; Zuvadelli, Juri ; Leuzzi, Vincenzo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.476-476, Article 476
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Impact of age at onset and newborn screening on outcome in organic acidurias
Author / Creator:Heringer, Jana ; Valayannopoulos, Vassili ; Lund, Allan M. ; Wijburg, Frits A. ; Freisinger, Peter ; Barić, Ivo ; Baumgartner, Matthias R. ; Burgard, Peter ; Burlina, Alberto B. ; Chapman, Kimberly A. ; i Saladelafont, Elisenda Cortès ; Karall, Daniela ; Mühlhausen, Chris ; Riches, Victoria ; Schiff, Manuel ; Sykut-Cegielska, Jolanta ; Walter, John H. ; Zeman, Jiri ; Chabrol, Brigitte ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353
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Clinical presentation and outcome in a series of 88 patients with the cblC defect
Author / Creator:Fischer, Sabine ; Huemer, Martina ; Baumgartner, Matthias ; Deodato, Federica ; Ballhausen, Diana ; Boneh, Avihu ; Burlina, Alberto B. ; Cerone, Roberto ; Garcia, Paula ; Gökçay, Gülden ; Grünewald, Stephanie ; Häberle, Johannes ; Jaeken, Jaak ; Ketteridge, David ; Lindner, Martin ; Mandel, Hanna ; Martinelli, Diego ; Martins, Esmeralda G. ; Schwab, Karl O. ; Gruenert, Sarah C. ; Schwahn, Bernd C. ; Sztriha, László ; Tomaske, Maren ; Trefz, Friedrich ; Vilarinho, Laura ; Rosenblatt, David S. ; Fowler, Brian ; Dionisi-Vici, Carlo
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.831-840
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Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions
Author / Creator:Reyes, Aurelio ; Melchionda, Laura ; Burlina, Alberto ; Robinson, Alan J ; Ghezzi, Daniele ; Zeviani, Massimo
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2018-10, Vol.10 (10), p.1-n/a
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Author / Creator:Posset, Roland ; Garcia-Cazorla, Angeles ; Valayannopoulos, Vassili ; Teles, Elisa Leão ; Dionisi-Vici, Carlo ; Brassier, Anaïs ; Burlina, Alberto B. ; Burgard, Peter ; Cortès-Saladelafont, Elisenda ; Dobbelaere, Dries ; Couce, Maria L. ; Sykut-Cegielska, Jolanta ; Häberle, Johannes ; Lund, Allan M. ; Chakrapani, Anupam ; Schiff, Manuel ; Walter, John H. ; Zeman, Jiri ; Vara, Roshni ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.661-672
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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
Author / Creator:Di Rocco, Maja ; Vici, Carlo Dionisi ; Burlina, Alberto ; Venturelli, Francesco ; Fiumara, Agata ; Fecarotta, Simona ; Donati, Maria Alice ; Spada, Marco ; Concolino, Daniela ; Pession, Andrea
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.197-197, Article 197
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Phenylketonuria

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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

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Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients

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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

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Suggested guidelines for the diagnosis and management of urea cycle disorders

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Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

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The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria

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Newborn screening in mucopolysaccharidoses

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Diagnosis and management of glutaric aciduria type I – revised recommendations

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Health-related quality of life in a european sample of adults with early-treated classical PKU

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International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

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Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

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Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

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Italian national consensus statement on management and pharmacological treatment of phenylketonuria

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Impact of age at onset and newborn screening on outcome in organic acidurias

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Clinical presentation and outcome in a series of 88 patients with the cblC defect

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Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions

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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency

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