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Alice Donati

Showing results (41-50 of 117) with videos related to

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Metabolic Brain Disease|July 1, 2017
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding siteSara Leo, Concetta Capo, Bianca Maria Ciminelli, et al.
Molecular Genetics and Metabolism|December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvementMargherita Protasoni, Claudio Bruno, Maria Alice Donati, et al.
Clinical Chemistry and Laboratory Medicine|August 11, 2020
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)Bruno Casetta, Sabrina Malvagia, Silvia Funghini, et al.
Molecular Genetics and Metabolism Reports|February 8, 2021
Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literatureFrancesca Miselli, Alice Brambilla, Giovanni Battista Calabri, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiencyMaja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, et al.
Orphanet Journal of Rare Diseases|June 22, 2018
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic aciduriasAnupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Galactosialidosis: review and analysis of CTSA gene mutationsAnna Caciotti, Serena Catarzi, Rodolfo Tonin, et al.
Clinical Genetics|November 12, 2021
Bi-allelic variants in MDH2: Expanding the clinical phenotypeChiara Ticci, Claudia Nesti, Anna Rubegni, et al.
European Journal of Human Genetics : EJHG|June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry diseaseCamilla Filoni, Anna Caciotti, Laura Carraresi, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Pageof 12

Showing results (41-50 of 117) with videos related to

Sort By:
Pageof 12
Metabolic Brain Disease|July 1, 2017
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding siteSara Leo, Concetta Capo, Bianca Maria Ciminelli, et al.
Molecular Genetics and Metabolism|December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvementMargherita Protasoni, Claudio Bruno, Maria Alice Donati, et al.
Clinical Chemistry and Laboratory Medicine|August 11, 2020
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)Bruno Casetta, Sabrina Malvagia, Silvia Funghini, et al.
Molecular Genetics and Metabolism Reports|February 8, 2021
Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literatureFrancesca Miselli, Alice Brambilla, Giovanni Battista Calabri, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiencyMaja Di Rocco, Carlo Dionisi Vici, Alberto Burlina, et al.
Orphanet Journal of Rare Diseases|June 22, 2018
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic aciduriasAnupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Galactosialidosis: review and analysis of CTSA gene mutationsAnna Caciotti, Serena Catarzi, Rodolfo Tonin, et al.
Clinical Genetics|November 12, 2021
Bi-allelic variants in MDH2: Expanding the clinical phenotypeChiara Ticci, Claudia Nesti, Anna Rubegni, et al.
European Journal of Human Genetics : EJHG|June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry diseaseCamilla Filoni, Anna Caciotti, Laura Carraresi, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Pageof 12