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Alice Donati

Showing results (51-60 of 117) with videos related to

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The Journal of Biological Chemistry|December 26, 2001
Altered thymidine metabolism due to defects of thymidine phosphorylaseAntonella Spinazzola, Ramon Marti, Ichizo Nishino, et al.
Human Mutation|February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosisAnna Caciotti, Maria Alice Donati, Avihu Boneh, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|August 24, 2015
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic AttackIlaria Romani, Walter Borsini, Patrizia Nencini, et al.
Orphanet Journal of Rare Diseases|February 16, 2013
New clinical and molecular insights on Barth syndromeLorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
Molecular Genetics and Metabolism|February 4, 2014
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patientsMichela Catteruccia, Daniela Verrigni, Diego Martinelli, et al.
Human Mutation|January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profilingAnna Caciotti, Maria Alice Donati, Elena Procopio, et al.
International Journal of Molecular Sciences|January 25, 2018
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the LiteratureCatia Cavicchi, Chiara Chilleri, Antonella Fioravanti, et al.
Italian Journal of Pediatrics|March 6, 2022
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panelVincenza Gragnaniello, Federica Deodato, Serena Gasperini, et al.
Cellular and Molecular Life Sciences : CMLS|February 25, 2022
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylationLaura Di Patria, Giosuè Annibalini, Amelia Morrone, et al.
Human Molecular Genetics|March 5, 2015
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathyClaudia Nesti, Maria Chiara Meschini, Brigitte Meunier, et al.
Pageof 12

Showing results (51-60 of 117) with videos related to

Sort By:
Pageof 12
The Journal of Biological Chemistry|December 26, 2001
Altered thymidine metabolism due to defects of thymidine phosphorylaseAntonella Spinazzola, Ramon Marti, Ichizo Nishino, et al.
Human Mutation|February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosisAnna Caciotti, Maria Alice Donati, Avihu Boneh, et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|August 24, 2015
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic AttackIlaria Romani, Walter Borsini, Patrizia Nencini, et al.
Orphanet Journal of Rare Diseases|February 16, 2013
New clinical and molecular insights on Barth syndromeLorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
Molecular Genetics and Metabolism|February 4, 2014
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patientsMichela Catteruccia, Daniela Verrigni, Diego Martinelli, et al.
Human Mutation|January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profilingAnna Caciotti, Maria Alice Donati, Elena Procopio, et al.
International Journal of Molecular Sciences|January 25, 2018
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the LiteratureCatia Cavicchi, Chiara Chilleri, Antonella Fioravanti, et al.
Italian Journal of Pediatrics|March 6, 2022
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panelVincenza Gragnaniello, Federica Deodato, Serena Gasperini, et al.
Cellular and Molecular Life Sciences : CMLS|February 25, 2022
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylationLaura Di Patria, Giosuè Annibalini, Amelia Morrone, et al.
Human Molecular Genetics|March 5, 2015
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathyClaudia Nesti, Maria Chiara Meschini, Brigitte Meunier, et al.
Pageof 12