Cargando…

Berardinelli-Seip congenital lipodystrophy in two siblings

Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive disorder characterized by various dermatological and systemic manifestations such as lipoatrophy, hypertriglyceridemia, hepatomegaly, acanthosis nigricans, and acromegaloid features. BSCL type 2 is more common and s...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rao, T. S. Mohana, Chennamsetty, Kavya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252944/ https://www.ncbi.nlm.nih.gov/pubmed/25506557 http://dx.doi.org/10.4103/2229-5178.144511

Ejemplares similares

Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy
por: Cândido Dantas, Verônica Kristina, et al.
Publicado: (2018)

Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy
por: Lima, Josivan Gomes, et al.
Publicado: (2018)

Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli–Seip Syndrome)
por: Rubaie, Khaled A., et al.
Publicado: (2020)

Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects
por: Dantas de Medeiros, Jorge Luiz, et al.
Publicado: (2018)

Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event
por: Beires, Francisca, et al.
Publicado: (2022)

The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years
por: Maeda, Miwako, et al.
Publicado: (2019)

Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy
por: Qannan, Abeer, et al.
Publicado: (2023)

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction
por: Ren, Meng, et al.
Publicado: (2020)

25Hydroxy-vitamin D status in patients with berardinelli-seip syndrome (congenital generalized lipodystrophy)
por: de Azevedo Souza Karbage, Lia Beatriz, et al.
Publicado: (2015)

Precocious endothelial dysfunction in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) evaluated by two different methods
por: Fernandes, Virgínia Oliveira, et al.
Publicado: (2015)

Successful long-term use of pioglitazone in Berardinelli–Seip lipodystrophy-associated diabetes
por: Chaves, Carolina, et al.
Publicado: (2021)

High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil
por: de Azevedo Medeiros, Lázaro Batista, et al.
Publicado: (2017)

Berardinelli–Seip congenital lipodystrophy 2/SEIPIN determines brown adipose tissue maintenance and thermogenic programing
por: Zhou, Hongyi, et al.
Publicado: (2020)

Berardinelli-Seip syndrome type 1 in an Egyptian child
por: Metwalley, Kotb Abbass, et al.
Publicado: (2014)

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
por: van der Pol, Rachel J., et al.
Publicado: (2015)

Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association
por: Alzu’bi, Ali A., et al.
Publicado: (2020)

Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant
por: Indumathi, C. K., et al.
Publicado: (2011)

Delayed Presentation of Berardinelli-Siep Lipodystrophy in an Adolescent Female
por: Cleary, Courtney, et al.
Publicado: (2023)

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
por: Oswiecimska, Joanna, et al.
Publicado: (2019)

Evaluation of steatohepatitis, body composition and metabolic profile of three patients with Berardinelli-Seip syndrome
por: Schnoll, Caroline, et al.
Publicado: (2015)

Oil Red-O Positive lipid blobs on peripheral blood film examination in a muscular infant with the diagnosis of Berardinelli–Seip syndrome
por: Chaudhary, Himanshi, et al.
Publicado: (2019)

Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
por: Hummadi, Abdulrrahman, et al.
Publicado: (2022)

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease
por: Ceccarini, Giovanni, et al.
Publicado: (2020)

Berardinelli-Seip syndrome in a Chinese boy with Seipin gene mutation: a case study and literature review of genotype-phenotype
por: Huang, Shan, et al.
Publicado: (2013)

Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report
por: Cecchetti, Carolina, et al.
Publicado: (2023)

SEIPS 101 and seven simple SEIPS tools
por: Holden, Richard J, et al.
Publicado: (2021)

In memoriam - Affonso Berardinelli Tarantino
por: Salluh, Jorge Ibrain de Figueira
Publicado: (2014)

Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association
por: Venkatachalam, Konakanchi, et al.
Publicado: (2016)

Bilateral Congenital Absence of the Stapes Superstructure in Two Siblings
por: Undabeitia, Jose Ignacio, et al.
Publicado: (2014)

Genetic considerations in recurrent congenital diaphragmatic hernia in two siblings
por: AlFaleh, Khalid, et al.
Publicado: (2006)

Acromegaly with congenital generalized lipodystrophy – two rare insulin resistance conditions in one patient: a case report
por: Guerreiro, Vanessa, et al.
Publicado: (2020)

Childhood lichen planus pemphigoides triggered by chickenpox
por: Mohanarao, T. S., et al.
Publicado: (2014)

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
por: Mancioppi, Valentina, et al.
Publicado: (2023)

Sac-Type Congenital Diaphragmatic Hernia: A Case Report of Two Siblings
por: Kodera, Chisato, et al.
Publicado: (2018)

Monogenic Diabetes Secondary to Congenital Lipodystrophy in a 14−year−old Yemeni Girl
por: Roth, Todd, et al.
Publicado: (2010)

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
por: Ardissone, Anna, et al.
Publicado: (2013)

Unusual magnetic resonance imaging findings of cystic bone lesions in congenital generalized lipodystrophy
por: de Oliveira, TFT, et al.
Publicado: (2022)

Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy
por: Lima, Grayce Ellen da Cruz Paiva, et al.
Publicado: (2019)

Hypomyelination and Congenital Cataract: Three Siblings Presentation
por: Karalok, Zeynep Selen, et al.
Publicado: (2020)

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes
por: Sousa-Santos, Francisco, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_61i37bmginafu4epbqoaf0v18g