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JAMA Network Open
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October 17, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities
Diana Carli, Paola Quarello, Francesco Porta, et al.
Transplant International : Official Journal of the European Society for Organ Transplantation
|
May 8, 2025
Lapdoctor: Multicentre Validation of a Scoring System for Preoperative Evaluation of Difficulty of Laparoscopic Donor Nephrectomy
Jacopo Romagnoli, Gionata Spagnoletti, Francesco Emilio Rossini, et al.
Biochemical and Biophysical Research Communications
|
March 15, 2008
Clinical and genetic characterization of Chanarin-Dorfman syndrome
Claudio Bruno, Enrico Bertini, Maja Di Rocco, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Identification of Novel Mutations in Patients Affected by Gaucher Disease
Monia Anania, Miriam Giacomarra, Annalisa D'Errico, et al.
Molecular Genetics and Metabolism
|
July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients
Filippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.
Molecular Genetics and Metabolism
|
October 14, 2022
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis
Luca Dello Strologo, Marco Spada, Carlo Dionisi Vici, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2023
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
Irini Manoli, Abigael Gebremariam, Samantha McCoy, et al.
European Heart Journal. Cardiovascular Imaging
|
January 24, 2021
Trabecular complexity as an early marker of cardiac involvement in Fabry disease
Antonia Camporeale, Francesco Moroni, Davide Lazzeroni, et al.
Molecular Genetics and Metabolism Reports
|
February 19, 2019
The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts
Dominique P Germain, Perry M Elliott, Bruno Falissard, et al.
Transplantation
|
May 10, 2005
Split-liver transplantation with pediatric donors: a multicenter experience
Matteo Cescon, Marco Spada, Michele Colledan, et al.
Page
of 25
Search research articles
Search
Showing results (191-200 of 243) with videos related to
Sort By:
Page
of 25
JAMA Network Open
|
October 17, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities
Diana Carli, Paola Quarello, Francesco Porta, et al.
Transplant International : Official Journal of the European Society for Organ Transplantation
|
May 8, 2025
Lapdoctor: Multicentre Validation of a Scoring System for Preoperative Evaluation of Difficulty of Laparoscopic Donor Nephrectomy
Jacopo Romagnoli, Gionata Spagnoletti, Francesco Emilio Rossini, et al.
Biochemical and Biophysical Research Communications
|
March 15, 2008
Clinical and genetic characterization of Chanarin-Dorfman syndrome
Claudio Bruno, Enrico Bertini, Maja Di Rocco, et al.
International Journal of Molecular Sciences
|
May 7, 2025
Identification of Novel Mutations in Patients Affected by Gaucher Disease
Monia Anania, Miriam Giacomarra, Annalisa D'Errico, et al.
Molecular Genetics and Metabolism
|
July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients
Filippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.
Molecular Genetics and Metabolism
|
October 14, 2022
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis
Luca Dello Strologo, Marco Spada, Carlo Dionisi Vici, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2023
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
Irini Manoli, Abigael Gebremariam, Samantha McCoy, et al.
European Heart Journal. Cardiovascular Imaging
|
January 24, 2021
Trabecular complexity as an early marker of cardiac involvement in Fabry disease
Antonia Camporeale, Francesco Moroni, Davide Lazzeroni, et al.
Molecular Genetics and Metabolism Reports
|
February 19, 2019
The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts
Dominique P Germain, Perry M Elliott, Bruno Falissard, et al.
Transplantation
|
May 10, 2005
Split-liver transplantation with pediatric donors: a multicenter experience
Matteo Cescon, Marco Spada, Michele Colledan, et al.
Page
of 25