Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Angela Garcia-Cazorla"'
Autor:
Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Cerebral Calcification International Study Group, Luisa Chiapparini, Barbara Garavaglia, Simona Orcesi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Abstract Background We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next Generation Sequencing (NGS) genetic analyses. Methods We collected all clinica
Externí odkaz:
https://doaj.org/article/11b85c2596e742bb992fba6b32048603
Autor:
Pasquale Striano, Stéphane Auvin, Abigail Collins, Rita Horvath, Ingrid E. Scheffer, Michal Tzadok, Ian Miller, Mary Kay Koenig, Adrian Lacy, Ronald Davis, Angela Garcia‐Cazorla, Russell P. Saneto, Melanie Brandabur, Susan Blair, Tony Koutsoukos, Darryl De Vivo
Publikováno v:
Epilepsia. 63:1748-1760
This study was undertaken to evaluate efficacy and long-term safety of triheptanoin in patients1 year old, not on a ketogenic diet, with drug-resistant seizures associated with glucose transporter 1 deficiency syndrome (Glut1DS).UX007G-CL201 was a ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ee0e7b5cc09d8c2458643b7e85b89e
https://doi.org/10.1111/epi.17263
https://doi.org/10.1111/epi.17263
Autor:
Sandrine Haut, Pierre Rustin, Audrey Boutron, Angela Garcia-Cazorla, Sophie Lebon, Alain Legrand, Abdelhamid Slama, Michèle Brivet, Guy Touati, Jean-Marie Saudubray
Publikováno v:
Human Genetics. 113:118-122
Mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase) consists of 11 subunits, only one (cytochrome b) being encoded by the mitochondrial DNA. Disorders of complex III are comparatively rare but are nevertheless present as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::585bab365de00912c91b5bee1088d355
https://doi.org/10.1007/s00439-003-0946-0
https://doi.org/10.1007/s00439-003-0946-0
Autor:
Audrey Boutron, Stanislas Lyonnet, J. M. Saudubray, Alain Legrand, Michèle Brivet, Yves Dumez, M.C. Nassogne, Angela Garcia-Cazorla, Abdelhamid Slama, Guy Touati
Publikováno v:
MOLECULAR GENETICS AND METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
The patient was the first child of healthy consanguineous parents. She presented at birth with hypotonia, mild facial dysmorphism, periventricular cysts, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate molar ratios, normogly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed8a8859ce8e0b4679f08240f8938e9b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7838
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7838
Autor:
Striano, Pasquale, Auvin, Stéphane, Collins, Abigail, Horvath, Rita, Scheffer, Ingrid E., Tzadok, Michal, Miller, Ian, Kay Koenig, Mary, Lacy, Adrian, Davis, Ronald, Garcia‐Cazorla, Angela, Saneto, Russell P., Brandabur, Melanie, Blair, Susan, Koutsoukos, Tony, De Vivo, Darryl
Publikováno v:
Epilepsia (Series 4); Jul2022, Vol. 63 Issue 7, p1748-1760, 13p
Autor:
Öztürk Hişmi, Burcu
Publikováno v:
Pamukkale Medical Journal; Jul2021, Vol. 14 Issue 3, p692-705, 14p
Publikováno v:
Inborn Metabolic Diseases: Diagnosis & Treatment; 2016, pI-XXXI, 31p
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Autor:
Tonduti, Davide1,2 davidetondu@hotmail.com, Panteghini, Celeste3 celeste.panteghini@istituto-besta.it, Pichiecchio, Anna4 anna.pichiecchio@mondino.it, Decio, Alice5,6 alice313@gmail.com, Carecchio, Miryam1,3,7 miryam.carecchio@istituto-besta.it, Reale, Chiara3 chiara.reale@istituto-besta.it, Moroni, Isabella1 isabella.moroni@istituto-besta.it, Nardocci, Nardo1 nardo.nardocci@istituto-besta.it, Campistol, Jaume8 campistol@hsjdbcn.org, Garcia-Cazorla, Angela8 agarcia@hsjdbcn.org, Perez Duenas, Belen8 bperez@hsjdbcn.org, Chiapparini, Luisa9 luisa.chiapparini@istituto-besta.it, Garavaglia, Barbara3 barbara.garavaglia@istituto-besta.it, Orcesi, Simona5 simona.orcesi@mondino.it, Cerebral Calcification International Study Group (CORPORATE AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 8/16/2018, Vol. 13 Issue 1, pN.PAG-N.PAG. 1p.
Autor:
Haut, Sandrine, Brivet, Michèle, Touati, Guy, Rustin, Pierre, Lebon, Sophie, Garcia-Cazorla, Angela, Saudubray, Jean Marie, Boutron, Audrey, Legrand, Alain, Slama, Abdelhamid
Publikováno v:
Human Genetics; Jul2003, Vol. 113 Issue 2, p118-122, 5p
Autor:
Mark W. Kline, Susan M. Blaney, Angelo P. Giardino, Jordan S. Orange, Daniel J. Penny, Gordon E. Schutze, Lara S. Shekerdemian, Abraham M. Rudolph, Colin D. Rudolph
Publisher's Note: Products purchased from Third Party sellers are not guaranteed by the publisher for quality, authenticity, or access to any online entitlements included with the product. The landmark pediatrics reference – completely reinvented b