Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques by Mariangela Martino, Jacopo Sartorelli, Vincenza Gragnaniello, Alberto Burlina

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Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion) by Iris Scala, Lucia Brodosi, Valentina Rovelli, Davide Noto, Alberto Burlina

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Correction to: Newborn screening in mucopolysaccharidoses by Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina

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Newborn screening in mucopolysaccharidoses by Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina

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Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria by Alberto Burlina, Chiara Cazzorla, Elisa Zanonato, Emanuela Viggiano, Ilaria Fasan, Giulia Polo

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Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions by Aurelio Reyes, Laura Melchionda, Alberto Burlina, Alan J Robinson, Daniele Ghezzi, Massimo Zeviani

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Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU): A Review by Elvira Verduci, Maria Teresa Carbone, Elisa Borghi, Emerenziana Ottaviano, Alberto Burlina, Giacomo Biasucci

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Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus by Carlo Fusco, Vincenzo Leuzzi, Pasquale Striano, Roberta Battini, Alberto Burlina, the Delphi panel experts’ group, Carlotta Spagnoli

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Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature by Vincenza Gragnaniello, Daniela Gueraldi, Laura Rubert, Francesca Manzoni, Chiara Cazzorla, Antonella Giuliani, Giulia Polo, Leonardo Salviati, Alberto Burlina

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Italian national consensus statement on management and pharmacological treatment of phenylketonuria by Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi

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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency by Maja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, Francesco Venturelli, Agata Fiumara, Simona Fecarotta, Maria Alice Donati, Marco Spada, Daniela Concolino, Andrea Pession

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Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for... by Evelina Maines, Michele Moretti, Nicola Vitturi, Giorgia Gugelmo, Ilaria Fasan, Livia Lenzini, Giovanni Piccoli, Vincenza Gragnaniello, Arianna Maiorana, Massimo Soffiati, Alberto Burlina, Roberto Franceschi

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Living with phenylketonuria in adulthood: The PKU ATTITUDE study by Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto Burlina

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Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe by Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

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Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal... by Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes by Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan

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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy by Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina

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Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive &amp; behavioral aspects in Phenylketonuria by Sara Parolisi, Chiara Montanari, Elisa Borghi, Chiara Cazzorla, Juri Zuvadelli, Martina Tosi, Rita Barone, Giulia Bensi, Cristina Bonfanti, Carlo Dionisi Vici, Giacomo Biasucci, Alberto Burlina, Maria T. Carbone, Elvira Verduci

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Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label... by Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch

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Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives by Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani

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