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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 literature
Francesca 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 deficiency
Maja 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 acidurias
Anupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, et al.
Orphanet Journal of Rare Diseases
|
August 7, 2013
Galactosialidosis: review and analysis of CTSA gene mutations
Anna Caciotti, Serena Catarzi, Rodolfo Tonin, et al.
Clinical Genetics
|
November 12, 2021
Bi-allelic variants in MDH2: Expanding the clinical phenotype
Chiara 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 disease
Camilla 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 Intolerance
Lorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Human Mutation
|
February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis
Anna 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 Attack
Ilaria Romani, Walter Borsini, Patrizia Nencini, et al.
Page
of 9
Search research articles
Search
Showing results (31-40 of 82) with videos related to
Sort By:
Page
of 9
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 literature
Francesca 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 deficiency
Maja 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 acidurias
Anupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, et al.
Orphanet Journal of Rare Diseases
|
August 7, 2013
Galactosialidosis: review and analysis of CTSA gene mutations
Anna Caciotti, Serena Catarzi, Rodolfo Tonin, et al.
Clinical Genetics
|
November 12, 2021
Bi-allelic variants in MDH2: Expanding the clinical phenotype
Chiara 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 disease
Camilla 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 Intolerance
Lorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Human Mutation
|
February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis
Anna 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 Attack
Ilaria Romani, Walter Borsini, Patrizia Nencini, et al.
Page
of 9