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Rare diseases in clinical endocrinology: A taxonomic classification system (247 visite)

Marcucci G, Cianferotti L, Beck-Peccoz P, Capezzone M, Cetani F, Colao A, Davì MV, Degli Uberti E, Del Prato S, Elisei R, Faggiano A, Ferone D, Foresta C, Fugazzola L, Ghigo E, Giacchetti G, Giorgino F, Lenzi A, Malandrino P, Mannelli M, Marcocci C, Masi L, Pacini F, Opocher G, Radicioni A, Tonacchera M, Vigneri R, Zatelli MC, Brandi ML

J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 2015; 38(2): 193-259.

Tipo di articolo: Journal Article,

Impact factor: 1.994, Impact factor a 5 anni: 1.78

Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84921774107&partnerID=40&md5=2c1c52d28dff3b486ac80fea506409b0

Parole chiave: Endocrine Glands, Endocrinopathy, Neuroendocrine Tumors, Orphan Disease, Taxonomy, Adrenal Disease, Article, Bone Metabolism, Disease Classification, Endocrine Disease, Endocrinologist, Energy Metabolism, Hypophysis Disease, Lipid Metabolism, Mineral Metabolism, Ovary Disease, Rare Disease, Testis Disease, Thyroid Disease, Water Metabolism,


*** IBB - CNR ***
Head, Bone Metablic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, Florence, Italy
Department of Clinical Sciences and Community Health, University of Milan, Endocrine Unit Fondazione IRCCS Ca' Granda, Milan, Italy
Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena Policlinico Santa Maria Alle Scotte, Siena, Italy
Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
Dipartimento di Medicina Clinica e Chirurgia, Università Federico II di Napoli, Naples, Italy
Department of Medicine, Clinic of Internal Medicine, University of Verona, Verona, Italy
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy
Section of Metabolic Diseases and Diabetes, Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy
Division of Endocrinology, Diabetology and Metabolism Department of Medical Sciences, University Hospital Città Salute e Scienza, Turin, Italy
Andrology and Metabolic Diseases, Department of Emergency and Organ Transplantation, University of Bari Aldo Moro, Bari, Italy
Section Medical Pathophysiology, Department Exp. Medicine, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy
Endocrinology Unit, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
Department of Orthopedic, Metabolic Bone Diseases Unit, AOUC-Careggi Hospital, Largo Palagi, 1, Florence, Italy
Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology, IRCCS, Padua, Italy


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Purpose: Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced. Methods and results: This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables. Conclusions: This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment. © 2014 Italian Society of Endocrinology (SIE).
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Faggiano A, Ramundo V, Del Prete M, Marotta V, Marciello F, Camera L, Napolitano V,  de LucaL, Lombardi G, Colao A
* Long-Acting Somatostatin Analogues are Highly Effective in Patients with Early Stage MEN-1-Related Well-Differentiated Neuroendocrine Tumors (82 visite)
Neuroendocrinology (ISSN: 0028-3835), 2012; 96: N/D-N/D.
Impact Factor: 3.537
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Esmaeilzadeh M, Kullingsjo J, Ullman H, Varrone A, Tedroff J
* Regional cerebral glucose metabolism after pridopidine (ACR16) treatment in patients with huntington disease (127 visite)
Clin Neuropharmacol (ISSN: 0362-5664), 2011 May; 34(3): 95-100.
Impact Factor: 2.166
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Giacco R, Clemente G, Cipriano D, Luongo D, Viscovo D, Patti L, Di Marino L, Giacco A, Naviglio D, Bianchi MA, Ciati R, Brighenti F, Rivellese AA, Riccardi G
* Effects of the regular consumption of wholemeal wheat foods on cardiovascular risk factors in healthy people (120 visite)
Nutrition (ISSN: 0939-4753, 1590-3729electronic), 2010 Mar; 20(3): 186-194.
Impact Factor: 3.438
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Capaccio D, Ciccodicola A, Sabatino L, Casamassimi A, Pancione M, Fucci A, Febbraro, Merlino A, Graziano G, Colantuoni V
* A novel germline mutation in Peroxisome Proliferator-Activated Receptor γ gene associated with large intestine polyp formation and dyslipidemia (105 visite)
Biochim Biophys Acta (ISSN: 0925-4439, 0006-3002, 1570-9639), 2010; 1802(6): 572-581.
Impact Factor: 2.773
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Coppola G, Fortunato D, Auricchio G, Mainolfi C, Operto FF, Signoriello G, Pascotto A, Salvatore M
* Bone mineral density in children, adolescents, and young adults with epilepsy (147 visite)
Epilepsia (ISSN: 1528-1167, 0013-9580), 2009 Sep; 50(9): 2140-2146.
Impact Factor: 4.052
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Pellecchia MT, Barone PB, Mollica C, Salvatore E, Ianniciello M, Longo K, Varrone A, Vicidomini C, Picillo M, De Michele G, Filla A, Salvatore M, Pappata S
* Diffusion-weighted imaging in multiple system atrophy: a comparison between clinical subtypes (165 visite)
Mov Disord (ISSN: 1531-8257, 0885-3185), 2009 Apr 15; 24(5): 689-696.
Impact Factor: 4.014
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Sciacca MFM, Pappalardo M, Milardi D, Grasso DM, La Rosa C
* Calcium-Activated Membrane Interaction Of The Islet Amyloid Polypeptide: Implications In The Pathogenesis Of Type Ii Diabetes Mellitus (126 visite)
Arch Biochem Biophys, 2008 Sep 15; 65(1-2): 291-298.
Impact Factor: 3.043
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Leonardi D, Polizzotti N, Carta A, Gelsomino R, Sava L, Vigneri R, Calaciura F
* Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism (91 visite)
Journal Of Clinical Endocrinology & Metabolism (ISSN: 0021-972x), 2008 Jul 1; 93(7): 2679-2685.
Impact Factor: 6.325
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Gustavsson T, Banyasz A, Sarkar N, Markovitsi D, Improta R
* Statin: New life for an old drug (129 visite)
Pharmacol Res Academic Press, 2008 Jun 23; 350(1-3): 1-2.
Impact Factor: 3.976
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Pulcrano M, Camera L, Pagano L, Del Vecchio S, Ferone D, Bodei L, Murgia A, Pace L, Storto G, Paganelli G, Colao A, Salvatore M, Lombardi G, Biondi B
* Usefulness of [(111)In-DTPA(0)] octreotide scintigraphy in a family with von Hippel-Lindau disease (165 visite)
J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 2008 Apr; 31(4): 352-359.
Impact Factor: 1.888
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Galdiero S, Galdiero M, Pedone C
* Beta-Barrel Membrane Bacterial Proteins: Structure, Function, Assembly And Interaction With Lipids (103 visite)
Curr Protein Pept Sci (ISSN: 1389-2037), 2007 Feb; 8(1): 63-82.
Impact Factor: 3.259
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Serrano CM, Allegri RF, Caramelli P, Taragano FE, Camera L
* Mild cognitive impairment. Survey of attitudes of specialists and general physicians (121 visite)
Medicina (ISSN: 0025-7680), 2007; 67(1): 19-25.
Impact Factor: 0.193
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Maestri R, Pinna G, Accardo A, Allegrini P, Balocchi R, D'ADDIO G, Ferrario M, Menicucci D, Porta A, Sassi R
* Nonlinear indices of heart rate variability in chronic heart failure patients: Redundancy and comparative clinical value (122 visite)
J Cardiovasc Electrophysiol (ISSN: 1045-3873), 2007; 18(4): 425-433.
Impact Factor: 3.475
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Maurea S, Imbriaco M, D'Angelillo M, Mollica C, Camera L, Salvatore M
* Diagnostic accuracy of chemical-shift MR imaging to differentiate between adrenal adenomas and non adenoma adrenal lesions (129 visite)
Radiol Med (ISSN: 0033-8362, 1826-6983, 1826-6983electronic), 2006 Sep; 111(5): 674-686.
Impact Factor: 1.368
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Tauchmanovà L, Pensabene M, Capuano I, Spagnoletti I, Zeppa P, Del Vecchio S, Mainenti PP, De Rosa G, Colao A, Contegiacomo A
* Poorly differentiated small cell neuroendocrine carcinoma localized in three different endocrine glands: Response to chemotherapy and octreotide LAR (110 visite)
J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 2005 Apr; 28(4): 371-378.
Impact Factor: 1.496
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Giacco R, Clemente G, Luongo D, Lasorella G, Fiume I, Brouns F, Bornet F, Patti L, Cipriano P, Rivellese AA, Riccardi G
* Effects of short-chain fructo-oligosaccharides on glucose and lipid metabolism in mild hypercholesterolaemic individuals (132 visite)
Clin Nutr (ISSN: 0261-5614), 2004 Jun; 23(3): 331-340.
Impact Factor: 2.019
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Aloj L, Caracò C, Panico M, Zannetti A, Del Vecchio S, Tesauro D, De Luca S, Arra C, Pedone C, Morelli G, Salvatore M
* In vitro and in vivo evaluation of In-111-DTPAGlu-G-CCK8 for cholecystokinin-B receptor imaging (169 visite)
J Nucl Med (ISSN: 1535-5667, 0161-5505, 1535-5667electronic), 2004 Mar; 45(3): 485-494.
Impact Factor: 5.362
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Aloj L, Panico M, Caraco C, Del Vecchio S, Arra C, Affuso A, Accardo A, Mansi R, Tesauro D, De Luca S, Pedone C, Visentin R, Mazzi U, Morelli G, Salvatore M
* In vitro and in vivo characterization of Indium-111 and Technetium-99m labeled CCK-8 derivatives for CCK-B receptor imaging (114 visite)
Cancer Biotherapy And Radiopharmaceuticals (ISSN: 1084-9785, 1084-4978), 2004 Feb; 19(1): 93-98.
Impact Factor: 1.091
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Camera L, Del Vecchio S, Quarantelli M, Ibello F, Pellegrino T, Salvatore M
* Radiolabeled somatostatin analogs in the diagnosis and staging of neuroendocrine tumors (103 visite)
J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 2003; 26(8Suppl): 60-62.
Impact Factor: 1.621
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De Lazzari C, Darowski M, Ferrari G, Clemente F, Guaragno M
* Energetic parameter changes with mechanical ventilation in conjunction with BVAD assistance (73 visite)
J Med Eng Technol (ISSN: 0309-1902), 2002 Mar; 26(2): 63-70.
Impact Factor: 0.538
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Colao A, Lastoria S, Ferone D, Varrella P, Marzullo P, Pivonello R, Cerbone G, Acampa W, Salvatore M, Lombardi G
The pituitary uptake of In-111-DTPA-D-Phe(1)-octreotide in the normal pituitary and in pituitary adenomas (116 visite)
J Endocrinol Invest (ISSN: 0391-4097, 1720-8386electronic), 1999 Mar; 22(3): 176-183.
Impact Factor: 0.957
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Wink DA, Hanbauer I, Grisham MB, Laval F, Nims RW, Laval J, Cook J, Pacelli R, Liebmann J, Krishna M, Ford PC, Mitchell JB
Chemical biology of nitric oxide: Regulation and protective and toxic mechanisms (80 visite)
Current Topics In Cellular Regulation (ISSN: 0070-2137), 1996; 34: 159-187.
Impact Factor: 4.375
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Lastoria S, Maurea S, Vergara E, Acampa W, Varrella P, Klain M, Muto P, Bernardy JD, Salvatore M
Comparison of labeled MIBG and somatostatin analogs in imaging neuroendocrine tumors (112 visite)
Q J Nucl Med (ISSN: 1125-0135, 1124-3937), 1995 Dec; 39(4Suppl1): 145-149.
Impact Factor: 2.125
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Marotta T, Ferrara LA, Di Marino L, Mancini M, Annuzzi G, Russo O, D'Orta G, Lucarelli C, Rossi F
Factors affecting lipoprotein lipase in hypertensive patients (89 visite)
Metab Clin Exp (ISSN: 0026-0495, 1532-8600), 1995 Jun; 44(6): 712-718.
Impact Factor: 1.681
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Greco AM, de Franciscis P, Bozza P, Salvatore M
Thyroid function and lipid metabolism in rats treated with lithium and cholesterol deficient Nath diet (107 visite)
Boll Soc Ital Biol Sper (ISSN: 0037-8771), 1979 Dec 30; 55(24): 2589-2595.
Impact Factor: 0
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34 Records (33 escludendo Abstract e Conferenze).
Impact factor totale: 98.292 (94.755 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 101.195 (97.567 escludendo Abstract e Conferenze).

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Ultima modifica di Marco Comerci in data Tuesday 23 June 2015, 13:19:39
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Ultimo aggiornamento: Wednesday 20 February 2019, 11:48:26