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Publications by Valeria Sabatino
Skin Fibroblasts of Patients With Geleophysic Dysplasia Due to FBN1 Mutations Have Lysosomal Inclusions and Losartan Improves Their Microfibril Deposition Defect
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Related publications
Two Patients With Severe Short Stature Due to a FBN1 Mutation (p.Ala1728Val) With a Mild Form of Acromicric Dysplasia
Hormone Research in Paediatrics
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Increased Frequency of FBN1 Frameshift and Nonsense Mutations in Marfan Syndrome Patients With Aortic Dissection
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Early Onset Mandibuloacral Dysplasia Due to Compound Heterozygous Mutations in ZMPSTE24
American Journal of Medical Genetics, Part A
Genetics
Molecular Screening of ADAMTSL2 Gene in 33 Patients Reveals the Genetic Heterogeneity of Geleophysic Dysplasia
Journal of Medical Genetics
Genetics
Protein Catabolism in Fibroblasts Cultured From Patients With Mucolipidosis II and Other Lysosomal Disorders
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
Magnesium Treatment for Patients With Refractory Status Epilepticus Due to POLG1-mutations
Journal of Neurology
Neurology
Increased Calmodulin in Cultured Skin Fibroblasts From Patients With Cystic Fibrosis
Biochemical Medicine
Stiffening of Human Skin Fibroblasts With Age
Clinics in Plastic Surgery
Surgery
Patients With Tuberous Sclerosis Have Fibroblasts With Normal Limits for Growth Characteristics and Sensitivities to DNA Alkylating Agents
Japanese Journal of Human Genetics
