Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4-Reference-Cited by-同舟云学术

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Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4

Published:2016-06 Issue:6-7 Volume:59 Page:320-324
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Akinci Gulcin,Topaloglu Haluk,Akinci Baris,Onay Huseyin,Karadeniz Cem,Ergul Yakup,Demir Tevfik,Ozcan Emin Evren,Altay Canan,Atik Tahir,Garg Abhimanyu

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference25 articles.

1. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34;Agarwal;Nat. Genet.,2002

2. A computational investigation of cardiac caveolae as a source of persistent sodium current;Besse;Front. Physiol.,2011

3. PTRF triggers a cave;Chadda;Cell,2008

4. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3;Cronk;Heart Rhythm,2007

5. Gaining respectability: membrane-delimited, caveolar-restricted activation of ion channels;Feron;Circ. Res.,2002

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1. Metabolic and other morbid complications in congenital generalized lipodystrophy type 4;American Journal of Medical Genetics Part A;2024-01-17

2. A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature;Frontiers in Endocrinology;2023-07-12

3. Clinical features of generalized lipodystrophy in Turkey: A cohort analysis;Diabetes, Obesity and Metabolism;2023-04-11

4. Lipodystrophies in non-insulin-dependent children: Treatment options and results from recombinant human leptin therapy;Pharmacological Research;2023-01

5. A deep learning-based tool for the automated detection and analysis of caveolae in transmission electron microscopy images;Computational and Structural Biotechnology Journal;2023

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