Bibliografías temáticas / Syndrome of Berardinelli

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Literatura académica sobre el tema "Syndrome of Berardinelli"

Autor: Grafiati
Publicado: 4 de junio de 2021
Última modificación: 1 de febrero de 2022

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Artículos de revistas sobre el tema "Syndrome of Berardinelli"

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Prasad, Col AN. "Berardinelli Seip Syndrome." Medical Journal Armed Forces India 62, no. 1 (2006): 83–84. http://dx.doi.org/10.1016/s0377-1237(06)80170-x.

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2

Das, G. P., and Lakshmi Mehta. "Seip-Berardinelli syndrome." Indian Journal of Pediatrics 58, no. 5 (1991): 695. http://dx.doi.org/10.1007/bf02820194.

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Das, G. P., and Lakshmi Mehta. "Seip-berardinelli syndrome." Indian Journal of Pediatrics 58, no. 4 (1991): 551–53. http://dx.doi.org/10.1007/bf02750941.

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Machado, Pedro Vale, Egon Luiz Rodrigues Daxbacher, Daniel Lago Obadia, Edna Ferreira da Cunha, Maria de Fátima Guimarães Scotelaro Alves, and Danielle Mann. "Do you know this syndrome?" Anais Brasileiros de Dermatologia 88, no. 6 (2013): 1011–13. http://dx.doi.org/10.1590/abd1806-4841.20132178.

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Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyc
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Bande-Fernández, José Joaquín, Raúl García-Castro, José Emilio Sánchez-Alvarez, et al. "Berardinelli-Seip syndrome in peritoneal dialysis." Nefrología (English Edition) 35, no. 5 (2015): 493–96. http://dx.doi.org/10.1016/j.nefroe.2015.11.005.

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Kazandjieva, Jana, Dimitrina Guleva, Sonya Márina, Assya Nikolova, Gergana Mladenova, and Alexander Kurtev. "Berardinelli-Seip Syndrome - A Case Report." Serbian Journal of Dermatology and Venereology 8, no. 2 (2016): 101–4. http://dx.doi.org/10.1515/sjdv-2016-0010.

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Abstract Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome (BSS), is a rare autosomal recessive disease characterized by near total absence of adipose tissue and muscular hypertrophy. Additional common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. An 11-year-old girl was admitted to our Clinic presenting with hyperandrogenic features, generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck,
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Ferraria, N., C. Pedrosa, D. Amaral, and L. Lopes. "Berardinelli-Seip syndrome: highlight of treatment challenge." Case Reports 2013, jan28 1 (2013): bcr2012007734. http://dx.doi.org/10.1136/bcr-2012-007734.

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Araujo, M., and L. Papendiek. "Berardinelli Seip Syndrome. Analysis of clinical cases." Atherosclerosis 241, no. 1 (2015): e117-e118. http://dx.doi.org/10.1016/j.atherosclerosis.2015.04.409.

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van der Pol, Rachel J., Marc A. Benninga, Jocelyne Magré, et al. "Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?" European Journal of Pediatrics 174, no. 7 (2015): 975–80. http://dx.doi.org/10.1007/s00431-015-2556-y.

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Abstract Berardinelli-Seip congenital lipodystrophy (BSCL) is an uncommon autosomal recessive disorder. Patients with BSCL present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. During childhood, diabetes and acanthosis nigricans evolve and female patients may develop hirsutism. Different genes encoding this entity have been described. Achalasia is a rare esophageal motility disorder, characterized by its distinct motility pattern with absent or incomplete lower esophageal sphincter (LES) relaxations. The exact cause of achalasia
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10

Shawky, Rabah M., Radwa Gamal, and Neveen S. Seifeldin. "Berardinelli–Seip syndrome type 2 – An Egyptian child." Egyptian Journal of Medical Human Genetics 16, no. 2 (2015): 189–93. http://dx.doi.org/10.1016/j.ejmhg.2014.08.004.

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Tesis sobre el tema "Syndrome of Berardinelli"

1

Greco, Magali Leheup Bruno. "Les lipodystrophies à propos d'un cas de syndrome de Berardinelli-SEIP /." [S.l] : [s.n], 2005. http://www.scd.uhp-nancy.fr/docnum/SCDMED_T_2005_ROUILLON_GRECO_MAGALI.pdf.

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Dantas, Virginia Kelly de Sousa C?ndido. "S?ndrome de Berardinelli :territorialidade e imagin?rio." Universidade Federal do Rio Grande do Norte, 2005. http://repositorio.ufrn.br:8080/jspui/handle/123456789/18893.

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Made available in DSpace on 2015-03-13T17:10:38Z (GMT). No. of bitstreams: 1 VirginiaKSCD.pdf: 1793959 bytes, checksum: bef47ccf6a35278da72e1cc518996320 (MD5) Previous issue date: 2005-11-25<br>The Syndrome of Berardinelli or Congenital Generalized Lipodystrophy, known popularly in Serid? as "The Magicians", it is considered in the world as a rare syndrome and of few studies. In Rio Grande do Norte, specifically, in the Area of Serid?, an important incidence of bearers was verified. Face to present subject, this work describes in beginning the origin and evolution of the referred syndrome,
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Rocha, ?rika Dantas de Medeiros. "Interven??o dietoter?pica em portadores de lipodistrofia generalizada cong?nita do Rio Grande do Norte." Universidade Federal do Rio Grande do Norte, 2008. http://repositorio.ufrn.br:8080/jspui/handle/123456789/13223.

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Made available in DSpace on 2014-12-17T14:13:38Z (GMT). No. of bitstreams: 1 ErikaDMR.pdf: 1138296 bytes, checksum: 0a0b6c2daed88fef46a41da7760c0079 (MD5) Previous issue date: 2008-10-20<br>Congenital generalized lipodystrophy is a rare genetic disease with autosomal recessive inheritance characterized by the generalized absence of subcutaneous adipose tissue and insulin resistance. The aim of our study was to determine the profile of patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) through their clinical history, eating habits, and socioeconomic and cultural a
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Libros sobre el tema "Syndrome of Berardinelli"

1

Sybert, Virginia P. Disorders of Subcutaneous Tissue. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0006.

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Cerebrotendinous Xanthomatosis – Familial Multiple Lipomatosis – Familial Symmetric Lipomatosis – Fibrodysplasia Ossificans Progressiva – Lipogranulomatosis – Partial Lipodystrophy – Seip-Berardinelli Syndrome
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2

Sybert, Virginia P. Disorders of Subcutaneous Tissue. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0006.

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Chapter 6 covers Cerebrotendinous Xanthomatosis, Familial Multiple Lipomatosis, Familial Symmetric Lipomatosis, Fibrodysplasia Ossificans Progressiva, Lipogranulomatosis, Partial Lipodystrophy, and Berardinelli-Seip Syndrome. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.
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Capítulos de libros sobre el tema "Syndrome of Berardinelli"

1

"Berardinelli syndrome." In Dermatology Therapy. Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/3-540-29668-9_388.

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"Berardinelli-Seip syndrome." In Dermatology Therapy. Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/3-540-29668-9_389.

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"Berardinelli-Seip-Lawrence syndrome." In Dermatology Therapy. Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/3-540-29668-9_390.

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