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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.
Clinical Chemistry and Laboratory Medicine
|
April 29, 2021
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients
Sabrina Malvagia, Lorenzo Ferri, Maria Della Bona, et al.
Muscle & Nerve
|
September 27, 2016
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes
Anna Pichiecchio, Marta Rossi, Claudia Cinnante, et al.
Human Molecular Genetics
|
October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Caterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Human Gene Therapy
|
February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial
Rita Ferla, Pamela Claudiani, Marco Savarese, et al.
Orphanet Journal of Rare Diseases
|
February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
Rossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
Molecular Genetics and Metabolism
|
April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Human Mutation
|
May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
Maria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.
European Journal of Pediatrics
|
May 6, 2022
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
Marika Pane, Maria Alice Donati, Costanza Cutrona, et al.
Journal of Inherited Metabolic Disease
|
April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
Renzo Manara, Elena Priante, Marco Grimaldi, et al.
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of 9
Search research articles
Search
Showing results (51-60 of 82) with videos related to
Sort By:
Page
of 9
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.
Clinical Chemistry and Laboratory Medicine
|
April 29, 2021
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients
Sabrina Malvagia, Lorenzo Ferri, Maria Della Bona, et al.
Muscle & Nerve
|
September 27, 2016
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes
Anna Pichiecchio, Marta Rossi, Claudia Cinnante, et al.
Human Molecular Genetics
|
October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Caterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Human Gene Therapy
|
February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial
Rita Ferla, Pamela Claudiani, Marco Savarese, et al.
Orphanet Journal of Rare Diseases
|
February 10, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
Rossella Parini, Paola De Lorenzo, Andrea Dardis, et al.
Molecular Genetics and Metabolism
|
April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Human Mutation
|
May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
Maria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.
European Journal of Pediatrics
|
May 6, 2022
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
Marika Pane, Maria Alice Donati, Costanza Cutrona, et al.
Journal of Inherited Metabolic Disease
|
April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
Renzo Manara, Elena Priante, Marco Grimaldi, et al.
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of 9