نتائج البحث - "Silvia Di Michele"

1

Academic Journal

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

المؤلفون: Damiana Pieragostino, Ilaria Cicalini, Silvia Di Michele, Paola Fusilli, Giovanna Cotugno, Rossella Ferrante, Ines Bucci, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Claudia Rossi

المصدر: Metabolites, Vol 10, Iss 2, p 44 (2020)

مصطلحات موضوعية: phenylketonuria, hyperphenylalaninemia, inborn error of metabolism, mass spectrometry, metabolomics, lc–ms/ms, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/10/2/44; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/7a3eca9bc52245d1a0a1978cd0c5bf3a

View record in DOAJ

Full Text Finder

2

Academic Journal

The diagnostic challenge of mild citrulline elevation at newborn screening

المؤلفون: Barbara Siri, Giorgia Olivieri, Antonio Angeloni, Sara Cairoli, Claudia Carducci, Giovanna Cotugno, Silvia Di Michele, Teresa Giovanniello, Giancarlo La Marca, Francesca Romana Lepri, Antonio Novelli, Claudia Rossi, Michela Semeraro, Carlo Dionisi-Vici

المساهمون: Siri, Barbara, Olivieri, Giorgia, Angeloni, Antonio, Cairoli, Sara, Carducci, Claudia, Cotugno, Giovanna, Di Michele, Silvia, Giovanniello, Teresa, La Marca, Giancarlo, Romana Lepri, Francesca, Novelli, Antonio, Rossi, Claudia, Semeraro, Michela, Dionisi-Vici, Carlo

مصطلحات موضوعية: Citrulline Expanded_Newborn_Screening Urea_Cycle_disorders Lysinuric_Protein_Intolerance Dihydrolipoamide_dehydrogenase_deficiency

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35279366; volume:135; issue:4; firstpage:327; lastpage:332; numberofpages:6; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/11564/780871; https://www.sciencedirect.com/science/article/abs/pii/S1096719222001512?via=ihub

الاتاحة: http://hdl.handle.net/11564/780871
https://doi.org/10.1016/j.ymgme.2022.02.008
https://www.sciencedirect.com/science/article/abs/pii/S1096719222001512?via=ihub

View record in BASE

3

Academic Journal

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy

المؤلفون: Daniela Semeraro, Sara Verrocchio, Giulia Di Dalmazi, Claudia Rossi, Damiana Pieragostino, Ilaria Cicalini, Rossella Ferrante, Silvia Di Michele, Liborio Stuppia, Cristiano Rizzo, Francesca Romana Lepri, Antonio Novelli, Carlo Dionisi-Vici, Vincenzo De Laurenzi, Ines Bucci

المصدر: International Journal of Environmental Research and Public Health; Volume 19; Issue 13; Pages: 8141

مصطلحات موضوعية: newborn blood spot screening, biotinidase deficiency, expanded newborn screening, inborn errors of metabolism, biotinidase gene variants, biotinidase activity

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Women's Health; https://dx.doi.org/10.3390/ijerph19138141

الاتاحة: https://doi.org/10.3390/ijerph19138141

View record in BASE

4

Academic Journal

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening

المؤلفون: Ilaria Cicalini, Damiana Pieragostino, Cristiano Rizzo, Sara Verrocchio, Daniela Semeraro, Mirco Zucchelli, Silvia Di Michele, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Ines Bucci, Claudia Rossi

المصدر: International Journal of Environmental Research and Public Health; Volume 18; Issue 4; Pages: 1659

مصطلحات موضوعية: biotinidase deficiency, newborn screening, inborn errors of metabolism, metabolic profiling, mass spectrometry

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Women's Health; https://dx.doi.org/10.3390/ijerph18041659

الاتاحة: https://doi.org/10.3390/ijerph18041659

View record in BASE

5

Fluid intake and blood pressure in children: the Salus per Aquam project

المؤلفون: Dario Consonni, Valentina P Capone, Antonella Mezzopane, Lucia Filippucci, Bertrand Tchana, Spa, Sandra Piantanida, Roberto Buzzetti, Francesco De Luca, Michela Perrone, S. Ghiglia, Patrizia Salice, Francesca Tel, Elena Dardi, Tiziana Bollani, Silvia Di Michele, Antonio Vergori, Maddalena Ardissino, Gianluigi Ardissino

المصدر: Journal of Hypertension. 40:171-179

مصطلحات موضوعية: medicine.medical_specialty, Creatinine, Physiology, business.industry, Sodium, Diastole, chemistry.chemical_element, Sodium intake, Fluid intake, chemistry.chemical_compound, Blood pressure, chemistry, Renal sodium excretion, Internal medicine, Internal Medicine, medicine, Cardiology and Cardiovascular Medicine, business, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3c407d8d3bc7b8cd140ba0a213488971
https://doi.org/10.1097/hjh.0000000000002992

View record in OpenAIRE

6

The diagnostic challenge of mild citrulline elevation at newborn screening

المؤلفون: Barbara Siri, Giorgia Olivieri, Antonio Angeloni, Sara Cairoli, Claudia Carducci, Giovanna Cotugno, Silvia Di Michele, Teresa Giovanniello, Giancarlo La Marca, Francesca Romana Lepri, Antonio Novelli, Claudia Rossi, Michela Semeraro, Carlo Dionisi-Vici

المصدر: Molecular genetics and metabolism. 135(4)

مصطلحات موضوعية: Citrullinemia, Endocrinology, Neonatal Screening, Endocrinology, Diabetes and Metabolism, Genetics, Infant, Newborn, Citrulline, Humans, Urea, Molecular Biology, Biochemistry, Urea Cycle Disorders, Inborn

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b7a214295686a546f7a223f8abcf66a
https://pubmed.ncbi.nlm.nih.gov/35279366

View record in OpenAIRE

7

Fluid intake and blood pressure in children: the Salus per Aquam project

المؤلفون: Gianluigi, Ardissino, Michela, Perrone, Silvia, Ghiglia, Patrizia, Salice, Francesca, Tel, Elena, Dardi, Tiziana, Bollani, Antonella, Mezzopane, Valentina, Capone, Maddalena, Ardissino, Antonio, Vergori, Sandra, Piantanida, Silvia, Di Michele, Bertrand, Tchana, Lucia, Filippucci, Francesco, De Luca, Dario, Consonni, Roberto, Buzzetti

المصدر: Journal of hypertension. 40(1)

مصطلحات موضوعية: Adult, Cohort Studies, Male, Cross-Sectional Studies, Child, Preschool, Hypertension, Sodium, Humans, Blood Pressure, Female, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::aff46372a57441067fffe2c2b7340e04
https://pubmed.ncbi.nlm.nih.gov/34857709

View record in OpenAIRE

8

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening

المؤلفون: Carlo Dionisi-Vici, Daniela Semeraro, Ines Bucci, Vincenzo De Laurenzi, Claudia Rossi, Damiana Pieragostino, Ilaria Cicalini, Cristiano Rizzo, Liborio Stuppia, Silvia Di Michele, Mirco Zucchelli, Sara Verrocchio

المصدر: International Journal of Environmental Research and Public Health
International Journal of Environmental Research and Public Health, Vol 18, Iss 1659, p 1659 (2021)