نتائج البحث - "Puma, Andrea"

1

Academic Journal

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

المؤلفون: Burlina, Alberto B., Burlina, Alessandro P., Mignani, Renzo, Cazzorla, Chiara, Gueraldi, Daniela, Puma, Andrea, Loro, Christian, Baumgartner, Matthias R., Gragnaniello, Vincenza

المصدر: JIMD Reports ; volume 65, issue 2, page 56-62 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12411
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12411

View record in BASE

2

Academic Journal

Normothermic cardiopulmonary bypass and beating heart surgery for renal cell cancer with tumor thrombus extension into inferior vena cava and right atrium: a less invasive strategy.

المؤلفون: Carmignani, Luca, Guzzo, Sonia, Baudo, Andrea, Nazzani, Sebastiano, Bonacina, Edoardo, Silvani, Carlo, Li Puma, Andrea, Di Benedetto, Roberto, Vizziello, Damiano, Finkelberg, Elisabetta, Acquati, Pietro, Bortolussi, Giacomo, Sala, Alessandra, De Vincentiis, Carlo

المصدر: World Journal of Urology; 12/4/2024, Vol. 43 Issue 1, p1-8, 8p

3

Academic Journal

Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency

المؤلفون: Gragnaniello, Vincenza, Gueraldi, Daniela, Puma, Andrea, Commone, Anna, Loro, Christian, Cazzorla, Chiara, Häberle, Johannes, Burlina, Alberto B

المصدر: Gragnaniello, Vincenza; Gueraldi, Daniela; Puma, Andrea; Commone, Anna; Loro, Christian; Cazzorla, Chiara; Häberle, Johannes; Burlina, Alberto B (2023). Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency. Journal of Pediatric Endocrinology & Metabolism, 36(9):873-878.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, N-carbamoyl-L-glutamate, carbamoyl phosphate synthetase 1 deficiency, urea cycle disorder

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/253026/1/ZORA_253026_.pdf; info:pmid/37427576; urn:issn:0334-018X

الاتاحة: https://www.zora.uzh.ch/id/eprint/253026/
https://www.zora.uzh.ch/id/eprint/253026/1/ZORA_253026_.pdf

View record in BASE

4

Academic Journal

Long‐term follow‐up of a patient with neonatal form of Gaucher disease

المؤلفون: Gragnaniello, Vincenza, Cazzorla, Chiara, Gueraldi, Daniela, Loro, Christian, Massa, Pamela, Puma, Andrea, Cananzi, Mara, Salviati, Leonardo, Burlina, Alessandro P., Burlina, Alberto B.

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 7, page 1917-1922 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63196
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63196

View record in BASE

5

Academic Journal

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

المؤلفون: Gragnaniello, Vincenza, Gueraldi, Daniela, Puma, Andrea, Commone, Anna, Cazzorla, Chiara, Loro, Christian, Porcù, Elena, Stornaiuolo, Maria, Miglioranza, Paolo, Salviati, Leonardo, Wanders, Ronald J. A., Burlina, Alberto

المساهمون: Università degli Studi di Padova

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02940-x
https://link.springer.com/content/pdf/10.1186/s13023-023-02940-x.pdf
https://link.springer.com/article/10.1186/s13023-023-02940-x/fulltext.html

View record in BASE

6

Academic Journal

Case Report: Long-Term Tolvaptan Treatment in a Child With SIADH and Suprasellar Arachnoid Cyst

المؤلفون: Puma, Andrea, Brugnara, Milena, Cavarzere, Paolo, Zaffanello, Marco, Piacentini, Giorgio, Gaudino, Rossella

المساهمون: Puma, Andrea, Brugnara, Milena, Cavarzere, Paolo, Zaffanello, Marco, Piacentini, Giorgio, Gaudino, Rossella

مصطلحات موضوعية: hyponatriemia, pediatric treatment, suprasellar arachnoid cysts, syndrome of inappropriate antidiuresis, tolvaptan, vaptans

Relation: info:eu-repo/semantics/altIdentifier/pmid/34336740; info:eu-repo/semantics/altIdentifier/wos/WOS:000679907300001; volume:9; firstpage:684131; lastpage:684138; numberofpages:8; journal:FRONTIERS IN PEDIATRICS; http://hdl.handle.net/11562/1062380; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111571148

الاتاحة: http://hdl.handle.net/11562/1062380
https://doi.org/10.3389/fped.2021.684131

View record in BASE

7

Academic Journal

Non-compaction myocardium in an early-treated infantile-onset Pompe disease patient

المؤلفون: Gragnaniello, Vincenza, Gueraldi, Daniela, Puma, Andrea, Cazzorla, Chiara, Loro, Christian, Burlina, Alberto

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107857 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107857
https://api.elsevier.com/content/article/PII:S1096719223004870?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223004870?httpAccept=text/plain

View record in BASE

8

Academic Journal

Unexpected high frequency of Krabbe disease detected by newborn screening in Italy

المؤلفون: Burlina, Alberto, Gueraldi, Daniela, Puma, Andrea, Cazzorla, Chiara, Loro, Christian, Gragnaniello, Vincenza

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107778 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107778
https://api.elsevier.com/content/article/PII:S1096719223004080?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223004080?httpAccept=text/plain

View record in BASE

9

Academic Journal

Normal cognitive outcome of transplanted mucopolysaccharidosis type I patients diagnosed by newborn screening

المؤلفون: Gragnaniello, Vincenza, Gueraldi, Daniela, Puma, Andrea, Cazzorla, Chiara, Loro, Christian, Burlina, Alberto

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107858 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107858
https://api.elsevier.com/content/article/PII:S1096719223004882?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223004882?httpAccept=text/plain

View record in BASE

10

Academic Journal

Family screening after newborn screening: The “domino effect” for Fabry disease

المؤلفون: Burlina, Alessandro, Gragnaniello, Vincenza, Gueraldi, Daniela, Puma, Andrea, Cazzorla, Chiara, Loro, Christian, Burlina, Alberto

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107779 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107779
https://api.elsevier.com/content/article/PII:S1096719223004092?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223004092?httpAccept=text/plain

View record in BASE

11

Academic Journal

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

المؤلفون: Gragnaniello, Vincenza, Cazzorla, Chiara, Gueraldi, Daniela, Puma, Andrea, Loro, Christian, Porcù, Elena, Stornaiuolo, Maria, Miglioranza, Paolo, Salviati, Leonardo, Burlina, Alessandro P., Burlina, Alberto B.

المصدر: International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p3, 13p

Full Text Finder

12

Academic Journal

Newborn screening for Gaucher disease in Italy: Birth prevalence and outcome

المؤلفون: Burlina, Alberto, Gragnaniello, Vincenza, Gueraldi, Daniela, Cazzorla, Chiara, Puma, Andrea, Commone, Anna, Massa, Pamela, Loro, Christian, Burlina, Alessandro

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107039 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.107039
https://api.elsevier.com/content/article/PII:S1096719222005170?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719222005170?httpAccept=text/plain

View record in BASE

13

Academic Journal

Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening

المؤلفون: Gragnaniello, Vincenza, Gueraldi, Daniela, Cazzorla, Chiara, Puma, Andrea, Commone, Anna, Massa, Pamela, Loro, Christian, Burlina, Alessandro, Burlina, Alberto

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107126 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.107126
https://api.elsevier.com/content/article/PII:S1096719222006047?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719222006047?httpAccept=text/plain

View record in BASE

14

Academic Journal

Parental Perceptions and Concerns Related to the Consequences of Pediatric Obesity: Feeling or Real Problem?

المؤلفون: Puma, Andrea, Pecoraro, Luca, Salvottini, Chiara, Carbonare, Luca Dalle, Piacentini, Giorgio, Pietrobelli, Angelo

المصدر: Endocrine, Metabolic & Immune Disorders - Drug Targets ; volume 23, issue 11, page 1380-1391 ; ISSN 1871-5303

الاتاحة: http://dx.doi.org/10.2174/1871530322666220530121012
https://www.eurekaselect.com/article/download?doi=10.2174/1871530322666220530121012
https://www.eurekaselect.com/205400/article

View record in BASE

15

Academic Journal

Newborn Screening for Fabry Disease: Current Status of Knowledge.

المؤلفون: Gragnaniello, Vincenza, Burlina, Alessandro P., Commone, Anna, Gueraldi, Daniela, Puma, Andrea, Porcù, Elena, Stornaiuolo, Maria, Cazzorla, Chiara, Burlina, Alberto B.

المصدر: International Journal of Neonatal Screening (IJNS); Jun2023, Vol. 9 Issue 2, p31, 17p

Full Text Finder

16

Occhio{\ldots} alla chemosi congiuntivale

المؤلفون: Puma, Andrea, Pecoraro, Luca, DALLE CARBONARE, Luca Giuseppe, Flore, Alice Iride, Piacentini, Giorgio, Pietrobelli, Angelo

مصطلحات موضوعية: N/A

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1943::73488c77698bbb765ce8b2c622653dc3
https://hdl.handle.net/11562/1084197

View record in OpenAIRE

17

Dissertation/ Thesis

Procesos estandarizados que intervienen en la formación clínica odontológica. Revisión de literatura ; Standardized processes involved in dental clinical training. Literature review

المؤلفون: Cardoza Manjarres, Loana Patricia, Fernández Torrejano, Luisa Fernanda, Ramírez Puma, Andrea Paola, Zapata Gallardo, Paula Sofía

المساهمون: Restrepo Pérez, Luis Fernando, Perdomo Rubio, Alejandro, Pardo, María Isabel

مصطلحات موضوعية: Registro dental, Bioseguridad, Evaluación, Educación dental, Dental registration, Bio-safety, Evaluation, Dental education, WU 100

وصف الملف: application/pdf

Relation: http://hdl.handle.net/20.500.12495/8036; instname: Universidad El Bosque; reponame: Repositorio Institucional Universidad El Bosque; repourl: https://repositorio.unbosque.edu.co

الاتاحة: https://hdl.handle.net/20.500.12495/8036

View record in BASE