Search Results - "Buganza, Raffaele"

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  1. 1

    Mediterranean Dietary Treatment in Hyperlipidemic Children: Should It Be an Option? by Massini, Giulia, Capra, Nicolò, Buganza, Raffaele, Nyffenegger, Anna, de Sanctis, Luisa, Guardamagna, Ornella

    Published in Nutrients (23-03-2022)
    “…Diet is considered the cornerstone of lipid management in hyperlipidemic children but evidence to demonstrate the effects of nutrient benefits on the lipid…”
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    Journal Article
  2. 2

    Teriparatide (rhPTH 1–34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism by Tuli, Gerdi, Buganza, Raffaele, Tessaris, Daniele, Einaudi, Silvia, Matarazzo, Patrizia, de Sanctis, Luisa

    Published in Endocrine (01-02-2020)
    “…Background Hypoparathyroidism is characterized by the absence or inadequately low circulating concentrations of the parathyroid hormone, resulting in…”
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  3. 3

    Menorrhagia as main presentation sign of severe hypothyroidism in a pediatric patient: a case report by Barbero, Arianna, Pagano, Manuela, Tuli, Gerdi, Buganza, Raffaele, de Sanctis, Luisa, Bondone, Claudia

    Published in Italian journal of pediatrics (11-09-2022)
    “…Abstract Background The relative high frequency of menstrual irregularities in the first two–three years after menarche may lead to the risk of underestimation…”
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    Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma by Vannelli, Silvia, Buganza, Raffaele, Runfola, Federica, Mussinatto, Ilaria, Andreacchio, Antonio, de Sanctis, Luisa

    Published in Italian journal of pediatrics (11-05-2020)
    “…Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the…”
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  5. 5

    Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life by Buganza, Raffaele, Massini, Giulia, Di Taranto, Maria Donata, Cardiero, Giovanna, de Sanctis, Luisa, Guardamagna, Ornella

    “…The diagnosis of familial hypercholesterolemia (FH) in children is primarily based on main criteria including low-density lipoprotein cholesterol (LDL-C)…”
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    Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature by Tuli, Gerdi, Munarin, Jessica, Tessaris, Daniele, Buganza, Raffaele, Matarazzo, Patrizia, De Sanctis, Luisa

    Published in Case reports in endocrinology (2021)
    “…Primary hyperparathyroidism (PHPT) is a rare disorder in children and adolescents. Typical biochemical features are hypercalcemia and hypophosphatemia, but the…”
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    Pediatric Myxedema Due to Autoimmune Hypothyroidism: A Rare Complication of a Common Disorder by Bonino, Elisa, Matarazzo, Patrizia, Buganza, Raffaele, Tuli, Gerdi, Munarin, Jessica, Bondone, Claudia, de Sanctis, Luisa

    Published in Children (Basel) (24-03-2023)
    “…In children, hypothyroidism usually presents non-specific symptoms; symptoms can emerge gradually, compromising a timely diagnosis. We report the case of a…”
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    SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators by Vannelli, Silvia, Baffico, Maria, Buganza, Raffaele, Verna, Francesca, Vinci, Giulia, Tessaris, Daniele, Di Rosa, Gianpaolo, Borraccino, Alberto, de Sanctis, Luisa

    Published in Italian journal of pediatrics (03-11-2020)
    “…Abstract Background The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this…”
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    Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study by Tessaris, Daniele, Matarazzo, Patrizia, Tuli, Gerdi, Tuscano, Antonella, Rabbone, Ivana, Spinardi, Alessandra, Lezo, Antonella, Fenocchio, Giorgia, Buganza, Raffaele, de Sanctis, Luisa

    Published in Children (Basel) (22-06-2021)
    “…Hypothalamic obesity (HO) is delineated by an inexorable weight gain in subjects with hypothalamic disorder (congenital or acquired). The aim of the present…”
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    Unusual Mild Phenotype Presentation in an Elderly Patient with Homozygous Tangier Disease by Guardamagna, Ornella, Bonardi, Renato, Buganza, Raffaele, Martino, Francesco, Pisciotta, Livia, de Sanctis, Luisa, Bassareo, Pier Paolo

    Published in Cardiogenetics (25-10-2024)
    “…Tangier disease (TD) is an extremely rare inherited disorder involving lipoprotein metabolism and high-density lipoprotein (HDL) recycling in particular. TD is…”
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  13. 13

    Oestrogenic Activity in Girls with Signs of Precocious Puberty as Exposure Biomarker to Endocrine Disrupting Chemicals: A Pilot Study by Gea, Marta, Toso, Anna, Bentivegna, Giuseppe Nicolò, Buganza, Raffaele, Abrigo, Enrica, De Sanctis, Luisa, Schilirò, Tiziana

    “…The relationship between endocrine disrupting chemical (EDC) exposure and Precocious Puberty (PP) was investigated in this pilot study, involving girls with…”
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  14. 14

    Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes by Carpino, Andrea, Buganza, Raffaele, Matarazzo, Patrizia, Tuli, Gerdi, Pinon, Michele, Calvo, Pier Luigi, Montin, Davide, Licciardi, Francesco, De Sanctis, Luisa

    Published in Genes (26-01-2021)
    “…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), caused by mutations in the gene, is mainly characterized by the triad of…”
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    The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group by Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, Pederiva, Cristina

    Published in Frontiers in genetics (20-06-2022)
    “…Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018,…”
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