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International Journal of Molecular Sciences
|
April 23, 2022
3-Methylglutaconic Aciduria Type I Due to <i>AUH</i> Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, et al.
European Journal of Medicinal Chemistry
|
October 18, 2016
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B
Sophie Front, Anna Biela-Banaś, Patricie Burda, et al.
Stem Cell Research
|
May 4, 2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
Rodolfo Tonin, Federica Feo, Silvia Falliano, et al.
Biochimica Et Biophysica Acta
|
July 22, 2009
The enigmatic role of tafazzin in cardiolipin metabolism
Riekelt H Houtkooper, Marjolein Turkenburg, Bwee Tien Poll-The, et al.
Molecular Genetics and Metabolism
|
November 13, 2019
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview
Anna Caciotti, Federico Melani, Rodolfo Tonin, 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 Attack
Ilaria Romani, Walter Borsini, Patrizia Nencini, et al.
Journal of Neurology
|
July 2, 2009
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients
A Caciotti, M Di Rocco, M Filocamo, et al.
Stem Cell Research
|
February 7, 2024
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector
Rodolfo Tonin, Federica Feo, Silvia Falliano, et al.
Orphanet Journal of Rare Diseases
|
February 16, 2013
New clinical and molecular insights on Barth syndrome
Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
BMC Medical Genetics
|
October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
Anna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Page
of 12
Search research articles
Search
Showing results (71-80 of 116) with videos related to
Sort By:
Page
of 12
International Journal of Molecular Sciences
|
April 23, 2022
3-Methylglutaconic Aciduria Type I Due to <i>AUH</i> Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, et al.
European Journal of Medicinal Chemistry
|
October 18, 2016
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B
Sophie Front, Anna Biela-Banaś, Patricie Burda, et al.
Stem Cell Research
|
May 4, 2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
Rodolfo Tonin, Federica Feo, Silvia Falliano, et al.
Biochimica Et Biophysica Acta
|
July 22, 2009
The enigmatic role of tafazzin in cardiolipin metabolism
Riekelt H Houtkooper, Marjolein Turkenburg, Bwee Tien Poll-The, et al.
Molecular Genetics and Metabolism
|
November 13, 2019
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview
Anna Caciotti, Federico Melani, Rodolfo Tonin, 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 Attack
Ilaria Romani, Walter Borsini, Patrizia Nencini, et al.
Journal of Neurology
|
July 2, 2009
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients
A Caciotti, M Di Rocco, M Filocamo, et al.
Stem Cell Research
|
February 7, 2024
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector
Rodolfo Tonin, Federica Feo, Silvia Falliano, et al.
Orphanet Journal of Rare Diseases
|
February 16, 2013
New clinical and molecular insights on Barth syndrome
Lorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
BMC Medical Genetics
|
October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
Anna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Page
of 12