Suchergebnisse - Sacchini, Michele

1

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

von: Pane, Marika

2022, in: European journal of pediatrics

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2

Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesResearch in context

von: Marika Pane

2023, in: EClinicalMedicine

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3

Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond

von: Antonio Toscano

2023, in: Orphanet Journal of Rare Diseases

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4

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

von: Filosto, Massimiliano

2019, in: Advances in therapy

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5

Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond

von: Toscano, Antonio

2023, in: Orphanet journal of rare diseases

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6

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

von: Luciano De Simone

2018, in: Italian Journal of Pediatrics

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7

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of

von: Claudia Dosi

2023, in: Genes

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8

O

von: Sapuppo, Annamaria

2022, in: Molecular genetics and metabolism

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9

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

von: Parini, Rossella

2018, in: Orphanet journal of rare diseases

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10

Alternative methods to reduce the animal use in quality controls of inactivated BTV8 Bluetongue vaccines

von: Luciani, Mirella

2020, in: Preventive veterinary medicine

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11

von: Fabrizio De Massis

2023, in: Microorganisms

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12

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

von: De Simone, Luciano

2018, in: The Italian journal of pediatrics

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13

Validation of the Hemifacial Spasm Grading Scale: a clinical tool for hemifacial spasm

von: Tambasco, Nicola

2019, in: Neurological sciences

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14

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

von: Pane, Marika

2024, in: European journal of pediatrics

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15

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy.

von: Elena Stacy Mazzone

2013, in: PLoS ONE

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16

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.

von: Marika Pane

2015, in: PLoS ONE

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17

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

von: Marika Pane

2014, in: PLoS ONE

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18

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

von: Rossella Parini

2018, in: Orphanet Journal of Rare Diseases

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19

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.

von: Marika Pane

2014, in: PLoS ONE

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20

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy.

von: Elena Stacy Mazzone

2013, in: PLoS ONE

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