Suchergebnisse - "Caciotti, Anna"

1

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview

von: Caciotti, Anna

2019, in: Molecular genetics and metabolism

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2

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

von: Caciotti, Anna

2018, in: BMC medical genetics

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3

SARS-CoV-2 infection in a patient with propionic acidemia

von: Caciotti, Anna

2020, in: Orphanet journal of rare diseases

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4

Galactosialidosis: review and analysis of CTSA gene mutations

von: Caciotti, Anna

2013, in: Orphanet journal of rare diseases

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5

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient

von: Caciotti, Anna

2003, in: Human genetics

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6

Morquio B disease: From pathophysiology towards diagnosis

von: Caciotti, Anna

2021, in: Molecular genetics and metabolism

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7

GM1 content evaluation in fibroblasts for pre-diagnosis and pharmacological management of patients affected by GM1 gangliosidosis

von: Calamai, Martino

2022, in: Measles transmission during a large outbreak in California

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8

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer

von: Tonin, Rodolfo

2018, in: Journal of neurology

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9

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

von: Lovera Cristina

2012, in: Italian Journal of Pediatrics

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10

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype

von: Lovera, Cristina

2012, in: The Italian journal of pediatrics

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11

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child

von: Tonin, Rodolfo

2015, in: Li-CO

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12

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression

von: Deodato, Federica

2017, in: Metabolic brain disease

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13

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B

von: Front, Sophie

2017transfer abstract, in: Electrochemical synthesis, photodegradation and antibacterial properties of PEG capped zinc oxide nanoparticles

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