Publications by authors named "Merve Celik Guler"
Context: Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant disorder caused by pathogenic variants in the LMNA gene. The influence of parental inheritance on clinical presentation has not been fully explored.
Objective: To investigate the influence of maternal versus paternal inheritance of LMNA variants on the clinical and metabolic phenotype of patients with FPLD2.
Objective: Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy [GL]) or partial (partial lipodystrophy [PL]; e.g.
View Article and Find Full Text PDFBackground: Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy, GL) or partial (partial lipodystrophy, PL; i.e.
View Article and Find Full Text PDFArticle Synopsis
- Lipodystrophy syndromes involve the loss of adipose tissue and result from genetic or acquired causes, with LMNA-related cases classified by severity.
- The study analyzed 494 patients from the researchers' cases and published studies to identify clinical features and genotype-phenotype relationships.
- Findings highlighted common variants linked to metabolic issues, with early diabetes and dyslipidemia as notable concerns, emphasizing their connection to acute pancreatitis risks among affected individuals.
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Diabetes Obes Metab
July 2023
Aim: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up.
Methods: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months.