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	1.	Survey of Italian pediatricians' perspectives and knowledge about neonatal screening. [electronic resource] by Burlina, Alberto B Corsello, Giovanni Producer: 20160208 In: Italian journal of pediatrics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Assessment of nephrotoxicity of high-cumulative dose of liposomal amphotericin B in a pediatric patient who underwent allogeneic bone marrow transplantation. [electronic resource] by Cesaro, Simone Zignol, Matteo Burlina, Alberto B Tridello, Gloria Visintin, Gianluca Messina, Chiara Producer: 20060822 In: Pediatric transplantation vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. [electronic resource] by Rugolotto, Simone Prioli, Maria D Toniolo, Daniela Pellegrino, PierAntonio Catuogno, Susanna Burlina, Alberto B Producer: 20040921 In: Molecular genetics and metabolism vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Hypoacetylaspartia: clinical and biochemical follow-up of a patient. [electronic resource] by Burlina, Alessandro P Schmitt, B Engelke, U Wevers, Ron A Burlina, Alberto B Boltshauser, Eugen Producer: 20060822 In: Advances in experimental medicine and biology vol. 576 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease. [electronic resource] by Burlina, Alessandro P Ferrari, Vanni Burlina, Alberto B Ermani, Mario Boespflug-Tanguy, Odile Bertini, Enrico Producer: 20060822 In: Advances in experimental medicine and biology vol. 576 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. [electronic resource] by Dionisi-Vici, Carlo Rizzo, Cristiano Burlina, Alberto B Caruso, Ubaldo Sabetta, Gaetano Uziel, Graziella Abeni, Damiano Producer: 20020430 In: The Journal of pediatrics vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. [electronic resource] by Manara, Renzo Burlina, Alessandro P Citton, Valentina Ermani, Mario Vespignani, Francesco Carollo, Carla Burlina, Alberto B Producer: 20100113 In: Neuroradiology vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. [electronic resource] by Sartori, Stefano Burlina, Alberto B Salviati, Leonardo Trevisson, Eva Toldo, Irene Laverda, Anna Maria Burlina, Alessandro P Producer: 20080911 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases. [electronic resource] by Cazzorla, Chiara Del Rizzo, Monica Burgard, Peter Zanco, Chiara Bordugo, Andrea Burlina, Alberto B Burlina, Alessandro P Producer: 20120925 In: Molecular genetics and metabolism vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. [electronic resource] by Viscomi, Carlo Burlina, Alberto B Dweikat, Imad Savoiardo, Mario Lamperti, Costanza Hildebrandt, Tatjana Tiranti, Valeria Zeviani, Massimo Producer: 20100831 In: Nature medicine vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease. [electronic resource] by Goi, Giancarlo Massaccesi, Luca Burlina, Alessandro P Baquero Herrera, Claudia J Lombardo, Adriana Tettamanti, Guido Burlina, Alberto B Producer: 20060313 In: Biochimica et biophysica acta vol. 1741 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Hepatocyte transplantation as a treatment for glycogen storage disease type 1a. [electronic resource] by Muraca, Maurizio Gerunda, Giorgio Neri, Daniele Vilei, Maria-Teresa Granato, Anna Feltracco, Paolo Meroni, Muzio Giron, Gianpiero Burlina, Alberto B Producer: 20020227 In: Lancet (London, England) vol. 359 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. [electronic resource] by Trevisson, Eva Salviati, Leonardo Baldoin, Maria Cristina Toldo, Irene Casarin, Alberto Sacconi, Sabrina Cesaro, Luca Basso, Giuseppe Burlina, Alberto B Producer: 20070724 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients. [electronic resource] by Garbade, Sven F Greenberg, Cheryl R Demirkol, Mübeccel Gökçay, Gülden Ribes, Antonia Campistol, Jaume Burlina, Alberto B Burgard, Peter Kölker, Stefan Producer: 20150515 In: Journal of inherited metabolic disease vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. [electronic resource] by Polo, Giulia Burlina, Alessandro P Kolamunnage, Thilini B Zampieri, Michele Dionisi-Vici, Carlo Strisciuglio, Pietro Zaninotto, Martina Plebani, Mario Burlina, Alberto B Producer: 20170303 In: Clinical chemistry and laboratory medicine vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria. [electronic resource] by Cazzorla, Chiara Cegolon, Luca Burlina, Alessandro P Celato, Andrea Massa, Pamela Giordano, Laura Polo, Giulia Daniele, Aurora Salvatore, Francesco Burlina, Alberto B Producer: 20150909 In: BMC public health vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin. [electronic resource] by Del Rizzo, Monica Galderisi, Alfonso Celato, Andrea Furlan, Francesca Giordano, Laura Cazzorla, Chiara Fasan, Ilaria Moretti, Carlo Zschocke, Johannes Burlina, Alberto B Producer: 20170802 In: European journal of pediatrics vol. 175 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. [electronic resource] by Del Rizzo, Monica Fanin, Marina Cerutti, Alessia Cazzorla, Chiara Milanesi, Ornella Nascimbeni, Anna Chiara Angelini, Corrado Giordano, Laura Bordugo, Andrea Burlina, Alberto B Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. [electronic resource] by Del Rizzo, Monica Burlina, Alessandro P Sass, Jörn Oliver Beermann, Frauke Zanco, Chiara Cazzorla, Chiara Bordugo, Andrea Giordano, Laura Manara, Renzo Burlina, Alberto B Producer: 20130827 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. [electronic resource] by Ghezzi, Daniele Baruffini, Enrico Haack, Tobias B Invernizzi, Federica Melchionda, Laura Dallabona, Cristina Strom, Tim M Parini, Rossella Burlina, Alberto B Meitinger, Thomas Prokisch, Holger Ferrero, Ileana Zeviani, Massimo Producer: 20120823 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 33 results.