Search the collection

42 results for Burlina,+Alberto+B.

Sort by:

Sort by

Limit results to:

20 per page

42 results for Burlina,+Alberto+B.

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 21
ArticlesPeer ReviewedFull Text
Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden
Author / Creator:Cazzorla, Chiara ; Gragnaniello, Vincenza ; Gaiga, Giacomo ; Gueraldi, Daniela ; Puma, Andrea ; Loro, Christian ; Benetti, Giada ; Schiavo, Rossana ; Porcù, Elena ; Burlina, Alessandro P ; Burlina, Alberto B
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2025-02, Vol.11 (1), p.14
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 22
ArticlesPeer ReviewedFull Text
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
Author / Creator:Gragnaniello, Vincenza ; Cazzorla, Chiara ; Gueraldi, Daniela ; Loro, Christian ; Porcù, Elena ; Salviati, Leonardo ; Burlina, Alessandro P. ; Burlina, Alberto B.
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2024-12, Vol.10 (4), p.79
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 23
ArticlesPeer ReviewedFull Text
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient
Author / Creator:Gragnaniello, Vincenza ; Rizzardi, Caterina ; Commone, Anna ; Gueraldi, Daniela ; Maines, Evelina ; Salviati, Leonardo ; Di Salvo, Giovanni ; Burlina, Alberto B.
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2023-03, Vol.12 (6), p.2365
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 24
ArticlesPeer ReviewedFull Text
Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression
Author / Creator:Burlina, Alberto B. ; Burlina, Alessandro P. ; Mignani, Renzo ; Cazzorla, Chiara ; Gueraldi, Daniela ; Puma, Andrea ; Loro, Christian ; Baumgartner, Matthias R. ; Gragnaniello, Vincenza
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2024-03, Vol.65 (2), p.56-62
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 25
ArticlesPeer ReviewedFull Text
Bone disease in early detected Gaucher Type I disease: A case report
Author / Creator:Gragnaniello, Vincenza ; Burlina, Alessandro P. ; Manara, Renzo ; Cazzorla, Chiara ; Rubert, Laura ; Gueraldi, Daniela ; Toniolli, Ermanno ; Quaia, Emilio ; Burlina, Alberto B.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-09, Vol.63 (5), p.414-419
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 26
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 27
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 28
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 29
ArticlesPeer ReviewedFull Text
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Author / Creator:Kölker, Stefan ; Cazorla, Angeles Garcia ; Valayannopoulos, Vassili ; Lund, Allan M. ; Burlina, Alberto B. ; Sykut-Cegielska, Jolanta ; Wijburg, Frits A. ; Teles, Elisa Leão ; Zeman, Jiri ; Dionisi-Vici, Carlo ; Barić, Ivo ; Karall, Daniela ; Augoustides-Savvopoulou, Persephone ; Aksglaede, Lise ; Arnoux, Jean-Baptiste ; Avram, Paula ; Baumgartner, Matthias R. ; Blasco-Alonso, Javier ; Chabrol, Brigitte ; Chakrapani, Anupam ; Chapman, Kimberly ; i Saladelafont, Elisenda Cortès ; Couce, Maria L. ; de Meirleir, Linda ; Dobbelaere, Dries ; Dvorakova, Veronika ; Furlan, Francesca ; Gleich, Florian ; Gradowska, Wanda ; Grünewald, Stephanie ; Jalan, Anil ; Häberle, Johannes ; Haege, Gisela ; Lachmann, Robin ; Laemmle, Alexander ; Langereis, Eveline ; de Lonlay, Pascale ; Martinelli, Diego ; Matsumoto, Shirou ; Mühlhausen, Chris ; de Baulny, Hélène Ogier ; Ortez, Carlos ; Peña-Quintana, Luis ; Ramadža, Danijela Petković ; Rodrigues, Esmeralda ; Scholl-Bürgi, Sabine ; Sokal, Etienne ; Staufner, Christian ; Summar, Marshall L. ; Thompson, Nicholas ; Vara, Roshni ; Pinera, Inmaculada Vives ; Walter, John H. ; Williams, Monique ; Burgard, Peter
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1041-1057
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 30
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 31
ArticlesPeer ReviewedFull Text
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report
Author / Creator:Del Rizzo, Monica ; Fanin, Marina ; Cerutti, Alessia ; Cazzorla, Chiara ; Milanesi, Ornella ; Nascimbeni, Anna Chiara ; Angelini, Corrado ; Giordano, Laura ; Bordugo, Andrea ; Burlina, Alberto B.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.389-393
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 32
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 33
ArticlesPeer ReviewedFull Text
Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study
Author / Creator:Burlina, Alessandro P. ; Cazzorla, Chiara ; Massa, Pamela ; Polo, Giulia ; Loro, Christian ; Gueraldi, Daniela ; Burlina, Alberto B.
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2019-10, Vol.11 (10), p.2541
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 34
ArticlesPeer ReviewedFull Text
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails
Author / Creator:Gragnaniello, Vincenza ; Puma, Andrea ; Gueraldi, Daniela ; D’Errico, Ignazio ; Cazzorla, Chiara ; Loro, Christian ; Porcù, Elena ; Salviati, Leonardo ; Burlina, Alberto B.
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2025-05, Vol.51 (1), p.137, Article 137
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 35
ArticlesPeer ReviewedFull Text
Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria
Author / Creator:Cazzorla, Chiara ; Cegolon, Luca ; Burlina, Alessandro P ; Celato, Andrea ; Massa, Pamela ; Giordano, Laura ; Polo, Giulia ; Daniele, Aurora ; Salvatore, Francesco ; Burlina, Alberto B
Publisher:England: BioMed Central Ltd
Journal title:BMC public health, 2014-12, Vol.14 (1), p.1243-1243, Article 1243
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 36
ArticlesPeer ReviewedFull Text
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Author / Creator:Posset, Roland ; Garbade, Sven F. ; Gleich, Florian ; Gropman, Andrea L. ; de Lonlay, Pascale ; Hoffmann, Georg F. ; Garcia-Cazorla, Angeles ; Nagamani, Sandesh C. S. ; Baumgartner, Matthias R. ; Schulze, Andreas ; Dobbelaere, Dries ; Yudkoff, Marc ; Kölker, Stefan ; Zielonka, Matthias
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-07, Vol.10 (1), p.11948-11948, Article 11948
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 37
ArticlesPeer ReviewedFull Text
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients
Author / Creator:Garbade, Sven F. ; Greenberg, Cheryl R. ; Demirkol, Mübeccel ; Gökçay, Gülden ; Ribes, Antonia ; Campistol, Jaume ; Burlina, Alberto B. ; Burgard, Peter ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.763-773
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 38
ArticlesPeer ReviewedFull Text
Survey of Italian pediatricians’ perspectives and knowledge about neonatal screening
Author / Creator:Burlina, Alberto B. ; Corsello, Giovanni
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2015-05, Vol.41 (1), p.41-41, Article 41
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 39
ArticlesPeer ReviewedFull Text
Hepatocyte transplantation as a treatment for glycogen storage disease type 1a
Author / Creator:Muraca, Maurizio ; Gerunda, Giorgio ; Neri, Daniele ; Vilei, Maria-Teresa ; Granato, Anna ; Feltracco, Paolo ; Meroni, Muzio ; Giron, Gianpiero ; Burlina, Alberto B
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2002-01, Vol.359 (9303), p.317-318
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 40
ArticlesPeer ReviewedFull Text
The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin
Author / Creator:Del Rizzo, Monica ; Galderisi, Alfonso ; Celato, Andrea ; Furlan, Francesca ; Giordano, Laura ; Cazzorla, Chiara ; Fasan, Ilaria ; Moretti, Carlo ; Zschocke, Johannes ; Burlina, Alberto B.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2016-08, Vol.175 (8), p.1123-1128
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 21 to 40 of 42 results

Export record to excel

Export this record

Export record to excel

Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden

Export this record

Export record to excel

Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy

Export this record

Export record to excel

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

Export this record

Export record to excel

Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression

Export this record

Export record to excel

Bone disease in early detected Gaucher Type I disease: A case report

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Export this record

Export record to excel

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

Export this record

Export record to excel

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report

Export this record

Export record to excel

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

Export this record

Export record to excel

Large Neutral Amino Acid Therapy Increases Tyrosine Levels in Adult Patients with Phenylketonuria: A Long-Term Study

Export this record

Export record to excel

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails

Export this record

Export record to excel

Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria

Export this record

Export record to excel

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Export this record

Export record to excel

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

Export this record

Export record to excel

Survey of Italian pediatricians’ perspectives and knowledge about neonatal screening

Export this record

Export record to excel

Hepatocyte transplantation as a treatment for glycogen storage disease type 1a

Export this record

Export record to excel

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin

Refine your search