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1

Non-specific gastrointestinal features: Could it be Fabry disease?

Hilz, Max J., Arbustini, Eloisa, Dagna, Lorenzo, Gasbarrini, Antonio, Goizet, Cyril, Lacombe, Didier, Liguori, Rocco, Manna, Raffaele, Politei, Juan, Spada, Marco, Burlina, Alessandro

Journal:

Digestive and Liver Disease

Year:

2018

Language:

english

File:

PDF, 2.43 MB

english, 2018

2

Automated Grading of Age-Related Macular Degeneration From Color Fundus Images Using Deep Convolutional Neural Networks

Burlina, Philippe M., Joshi, Neil, Pekala, Michael, Pacheco, Katia D., Freund, David E., Bressler, Neil M.

Journal:

JAMA Ophthalmology

Year:

2017

Language:

english

File:

PDF, 512 KB

english, 2017

3

Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision

Häberle, Johannes, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Karall, Daniela, Lindner, Martin, Mandel, Hanna, Martinelli, Diego, Pintos‐Morell, Guillem, Santer, René, Skouma, Anastasia, S

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 2.22 MB

english, 2019

4

Deep learning in ophthalmology: The technical and clinical considerations

Ting, Daniel S.W., Peng, Lily, Varadarajan, Avinash V., Keane, Pearse A., Burlina, Phil, Chiang, Michael F., Schmetterer, Leopold, Pasquale, Louis R., Bressler, Neil M., Webster, Dale R., Abramoff, Mi

Journal:

Progress in Retinal and Eye Research

Year:

2019

Language:

english

File:

PDF, 7.97 MB

english, 2019

5

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

Journal:

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

6

Management of adult patients with phenylketonuria: survey results from 24 countries

Trefz, Friedrich K., van Spronsen, Francjan J., MacDonald, Anita, Feillet, François, Muntau, Ania C., Belanger-Quintana, Amaya, Burlina, Alberto, Demirkol, Mübeccel, Giovannini, Marcello, Gasteyger, C

Journal:

European Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 347 KB

english, 2015

7

Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires

Regnault, Antoine, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Benmedjahed, Khadra, Bosch, Annet M

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 677 KB

english, 2015

8

Erratum to “Mediterranean Diet and Red Yeast Rice Supplementation for the Management of Hyperlipidemia in Statin-Intolerant Patients with or without Type 2 Diabetes”

Sartore, Giovanni, Burlina, Silvia, Ragazzi, Eugenio, Ferraresso, Stefania, Valentini, Romina, Lapolla, Annunziata

Journal:

Evidence-based Complementary and Alternative Medicine

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

9

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

Bosch, Annet M, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Koledova, Ekaterina, Benmedjahed, Khadra, Regnault, Antoine

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

10

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

Posset, Roland, Garcia-Cazorla, Angeles, Valayannopoulos, Vassili, Leão Teles, Elisa, Dionisi-Vici, Carlo, Brassier, Anaïs, Burlina, Alberto B., Burgard, Peter, Cortès-Saladelafont, Elisenda, Dobbelae

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

File:

PDF, 301 KB

2018

11

Continuous glucose monitoring in conditions other than diabetes

Alberto Maran, Cristina Crepaldi, Angelo Avogaro, Susanna Catuogno, Alberto Burlina, Alessandro Poscia, Antonio Tiengo

Journal:

Diabetes/Metabolism Research and Reviews

Year:

2004

Language:

english

File:

PDF, 239 KB

english, 2004

12

Small fiber neuropathy in female patients with fabry disease

Rocco Liguori, Vitantonio Di Stasi, Enrico Bugiardini, Renzo Mignani, Alessandro Burlina, Walter Borsini, Agostino Baruzzi, Pasquale Montagna, Vincenzo Donadio

Journal:

Year:

2010

Language:

english

File:

PDF, 348 KB

english, 2010

13

CPK and CPK-MB in the early diagnosis of acute myocardial infarction and prediction of infarcted area

A. Burlina, P. Rizzotti, M. Plebani, C. Cocco, C. Vassanelli, G. Menegatti

Journal:

Clinical Biochemistry

Year:

1984

Language:

english

File:

PDF, 557 KB

english, 1984

14

Temporal Analysis of Motion in Video Sequences through Predictive Operators

Philippe Burlina, Rama Chellappa

Journal:

International Journal of Computer Vision

Year:

1998

Language:

english

File:

PDF, 309 KB

english, 1998

15

Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism

Alberto B. Burlina, Luisa Bonafé, Franco Zacchello

Journal:

Seminars in Perinatology

Year:

1999

Language:

english

File:

PDF, 1.02 MB

english, 1999

16

Long-Term Treatment with Sodium Phenylbutyrate in Ornithine Transcarbamylase-Deficient Patients

Alberto B. Burlina, Helen Ogier, Herbert Korall, Friedrich K. Trefz

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 70 KB

english, 2001

17

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

Carlo Viscomi⁎, Alberto Burlina, Imad Dweikat, Mario Savoiardo, Valeria Tiranti, Massimo Zeviani

Journal:

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

18

Suggested guidelines for the diagnosis and management of urea cycle disorders

Johannes Häberle, Nathalie Boddaert, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Martina Huemer, Daniela Karall, Diego Martinelli, Pablo Sanjurjo Crespo, René Santer, Aude Servais, Vassili Val

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 605 KB

english, 2012

19

The importance of HbA1c and glucose variability in patients with type 1 and type 2 diabetes: outcome of continuous glucose monitoring (CGM)

Sartore, Giovanni, Chilelli, Nino Cristiano, Burlina, Silvia, Stefano, Paola Di, Piarulli, Francesco, Fedele, Domenico, Mosca, Andrea, Lapolla, Annunziata

Journal:

Acta Diabetologica

Year:

2012

Language:

english

File:

PDF, 341 KB

english, 2012

20

Association between glucose variability as assessed by continuous glucose monitoring (CGM) and diabetic retinopathy in type 1 and type 2 diabetes

Sartore, Giovanni, Chilelli, Nino Cristiano, Burlina, Silvia, Lapolla, Annunziata

Journal:

Acta Diabetologica

Year:

2013

Language:

english

File:

PDF, 218 KB

english, 2013

21

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Camp, Kathryn M., Parisi, Melissa A., Acosta, Phyllis B., Berry, Gerard T., Bilder, Deborah A., Blau, Nenad, Bodamer, Olaf A., Brosco, Jeffrey P., Brown, Christine S., Burlina, Alberto B., Burton, Bar

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 869 KB

english, 2014

22

Mutational Screening ofNOTCH3Gene Reveals Two Novel Mutations: Complexity of CADASIL Diagnosis

Mosca, Lorena, Rivieri, Francesca, Tanel, Raffaella, Bonfante, Aldo, Burlina, Alessandro, Manfredini, Emanuela, Primignani, Paola, Gesu, Giovanni P., Marocchi, Alessandro, Penco, Silvana

Journal:

Journal of Molecular Neuroscience

Year:

2014

Language:

english

File:

PDF, 1.06 MB

english, 2014

23

[IEEE 2010 IEEE International Symposium on Biomedical Imaging: From Nano to Macro - Rotterdam, Netherlands (2010.04.14-2010.04.17)] 2010 IEEE International Symposium on Biomedical Imaging: From Nano to Macro - Increasing temporal resolution of 3D transesophageal ultrasound by rigid body registration of sequential, temporally offset sequences

Contijoch, Francisco, Fernandez-de-Manuel, Laura, Ngo, Tri, Stearns, Joshua, Grogan, Kelly L., Brady, MaryBeth, Burlina, Philippe M., Santos, Andres, Yuh, David D., Herzka, Daniel A., Ledesma-Carbayo,

Year:

2010

Language:

english

File:

PDF, 371 KB

english, 2010

24

Oxygen derived free radicals in patients with chronic pancreatic and other digestive diseases.

Basso, D, Panozzo, M P, Fabris, C, del Favero, G, Meggiato, T, Fogar, P, Meani, A, Faggian, D, Plebani, M, Burlina, A

Journal:

Journal of Clinical Pathology

Year:

1990

Language:

english

File:

PDF, 584 KB

english, 1990

25

Translocation and Endocytosis for Cell-penetrating Peptide Internalization

Jiao, C.-Y., Delaroche, D., Burlina, F., Alves, I. D., Chassaing, G., Sagan, S.

Journal:

Journal of Biological Chemistry

Year:

2009

Language:

english

File:

PDF, 2.82 MB

english, 2009

26

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 480 KB

english, 2015

27

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

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, Je

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 693 KB

english, 2015

28

Mediterranean Diet and Red Yeast Rice Supplementation for the Management of Hyperlipidemia in Statin-Intolerant Patients with or without Type 2 Diabetes

Giovanni, Sartore, Silvia, Burlina, Eugenio, Ragazzi, Stefania, Ferraresso, Romina, Valentini, Annunziata, Lapolla

Journal:

Evidence-based Complementary and Alternative Medicine

Year:

2013

Language:

english

File:

PDF, 112 KB

english, 2013

29

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Salvi, S., Santorelli, F. M., Bertini, E., Boldrini, R., Meli, C., Donati, A., Burlina, A. B., Rizzo, C., Di Capua, M., Fariello, G., Dionisi-Vici, C.

Journal:

Year:

2001

Language:

english

File:

PDF, 1.67 MB

english, 2001

30

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

S. Kölker, V. Valayannopoulos, A. B. Burlina, J. Sykut-cegielska, F. A. Wijburg, E. L. Teles, J. Zeman, C. Dionisi-vici, I. Barić, D. Karall, J. Arnoux, P. Avram, M. R. Baumgartner, J. Blasco-alonso,

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

File:

PDF, 87 KB

2015

31

Clinical and biochemical characterization of four patients with mutations in ECHS1

Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R.,

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

32

The galactosemia network (GalNet)

Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T., Treacy, E. P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 231 KB

english, 2017

33

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

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 266 KB

english, 2017

34

Local Externalities and Firm Internationalisation

Burlina, Chiara

Journal:

Tijdschrift voor economische en sociale geografie

Year:

2016

Language:

english

File:

PDF, 120 KB

english, 2016

35

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

Unsinn, Caroline, Das, Anibh, Valayannopoulos, Vassili, Thimm, Eva, Beblo, Skadi, Burlina, Alberto, Konstantopoulou, Vassiliki, Mayorandan, Sebene, de Lonlay, Pascale, Rennecke, Jörg, Derbinski, Jens,

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 837 KB

english, 2016

36

Comparing humans and deep learning performance for grading AMD: A study in using universal deep features and transfer learning for automated AMD analysis

Burlina, Philippe, Pacheco, Katia D., Joshi, Neil, Freund, David E., Bressler, Neil M.

Journal:

Computers in Biology and Medicine

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

37

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients

Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, De Laet, Corinne, Leuzzi, Vincenzo, Rutsch, Frank, Sivri, H. Serap, Vijay, Suresh, Bal, Milva Orquidea, Gramer, Gwendolyn, Pazd

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 978 KB

english, 2017

38

Comorbidity, Polytherapy, and Drug Interactions in a Neurological Context

Busa, Giulia, Burlina, Alessandro, Damuzzo, Vera, Chiumente, Marco, Palozzo, Angelo C.

Journal:

Journal of Pharmacy Practice

Year:

2017

Language:

english

File:

PDF, 303 KB

english, 2017

39

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

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, Ales

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 767 KB

english, 2017

40

Membrane Crossing and Membranotropic Activity of Cell-Penetrating Peptides: Dangerous Liaisons ?

Walrant, Astrid, Cardon, Sébastien, Burlina, Fabienne, Sagan, Sandrine

Journal:

Accounts of Chemical Research

Year:

2017

Language:

english

File:

PDF, 1.27 MB

english, 2017

41

Fabry disease revisited: Management and treatment recommendations for adult patients

Ortiz, Alberto, Germain, Dominique P., Desnick, Robert J., Politei, Juan, Mauer, Michael, Burlina, Alessandro, Eng, Christine, Hopkin, Robert J., Laney, Dawn, Linhart, Aleš, Waldek, Stephen, Wallace,

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.37 MB

english, 2018

42

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Parini, Rossella, De Lorenzo, Paola, Dardis, Andrea, Burlina, Alberto, Cassio, Alessandra, Cavarzere, Paolo, Concolino, Daniela, Della Casa, Roberto, Deodato, Federica, Donati, Maria Alice, Fiumara, A

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 699 KB

english, 2018

43

AI for medical imaging goes deep

Ting, Daniel S. W., Liu, Yong, Burlina, Philippe, Xu, Xinxing, Bressler, Neil M., Wong, Tien Y.

Journal:

Nature Medicine

Year:

2018

Language:

english

File:

PDF, 744 KB

english, 2018

44

The complete European guidelines on phenylketonuria: diagnosis and treatment

van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Mail

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 13.62 MB

english, 2017

45

Neurometabolic Hereditary Diseases of Adults || Niemann-Pick Disease Type C

Burlina, Alessandro P.

Year:

2018

Language:

english

File:

PDF, 426 KB

english, 2018

46

Long-term effect of pioglitazone vs glimepiride on lipoprotein oxidation in patients with type 2 diabetes: a prospective randomized study

Sartore, Giovanni, Chilelli, Nino Cristiano, Seraglia, Roberta, Ragazzi, Eugenio, Marin, Raffaella, Roverso, Marco, Cosma, Chiara, Vaccaro, Olga, Burlina, Silvia, Lapolla, Annunziata

Journal:

Acta Diabetologica

Year:

2019

Language:

english

File:

PDF, 716 KB

english, 2019

47

Deep learning based retinal OCT segmentation

Pekala, M., Joshi, N., Liu, T.Y. Alvin, Bressler, N.M., DeBuc, D. Cabrera, Burlina, P.

Journal:

Computers in Biology and Medicine

Year:

2019

Language:

english

File:

PDF, 1.82 MB

english, 2019

48

Computational Retinal Image Analysis || Artificial intelligence and deep learning in retinal image analysis

Burlina, Philippe

Year:

2019

Language:

english

File:

PDF, 553 KB

english, 2019

49

Oxygen and nitrite reduction by heme‐deficient sulfite oxidase in a patient with mild sulfite oxidase deficiency

Bender, Daniel, Kaczmarek, Alexander T., Kuester, Sabina, Burlina, Alberto B., Schwarz, Guenter

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

Language:

english

File:

PDF, 1.17 MB

english, 2020

50

High incidence of Gaucher disease in northeast Italy: Results from lysosomal newborn screening

Burlina, Alberto, Polo, Giulia, Gueraldi, Daniela, Rubert, Laura, Cazzorla, Chiara, Giuliani, Antonella, Burlina, Alessandro

Journal:

Molecular Genetics and Metabolism

Year:

2020

Language:

english

File:

PDF, 329 KB

english, 2020

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