Suchergebnisse - "Sacchini, Michele"

1

O

von: Sapuppo, Annamaria

2022, in: Molecular genetics and metabolism

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2

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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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: Toscano, Antonio

2023, in: Orphanet journal of rare diseases

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4

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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5

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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6

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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7

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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