Physician

Medical Genetics

Simona Bianconi works in the field of Medical Genetics. Simona Bianconi has written publications. He has 9 publications published with PubMed. The lastest publication is: 'Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.'

Publications

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• Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.
• Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.
• Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.
• Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study.
• Oxidative stress in Niemann-Pick disease, type C.
• Consideration of VACTERL association in patients with trisomy 21.
• Ranitidine and late-onset sepsis in the neonatal intensive care unit.
• Adrenal function in Smith-Lemli-Opitz syndrome.

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Education

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• National Institutes of Health Clinical Center
• New York Methodist Hospital
• University of Vienna Faculty of Medicine

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