Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center
暂无分享,去创建一个
S. Liatis | G. Dimitriadis | V. Lambadiari | E. Maratou | I. Ikonomidis | N. Tentolouris | P. Toulas | A. Kountouri | E. Korakas | F. Kousathana | K. Balampanis | Christophoros Giatzakis
[1] E. Renard,et al. Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real‐life experience from a national reference network , 2022, Diabetes, obesity & metabolism.
[2] Rebecca J. Brown,et al. Effects of metreleptin in patients with lipodystrophy with and without baseline concomitant medication use , 2021, Current medical research and opinion.
[3] F. Karpe,et al. Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance , 2021, Frontiers in Endocrinology.
[4] A. Bargiota,et al. Familial Partial Lipodystrophy (FPLD): Recent Insights , 2020, Diabetes, metabolic syndrome and obesity : targets and therapy.
[5] Rebecca J. Brown,et al. Comorbidities and Survival in Patients with Lipodystrophy: An International Chart Review Study. , 2019, The Journal of clinical endocrinology and metabolism.
[6] A. Garg,et al. Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants. , 2019, The Journal of clinical endocrinology and metabolism.
[7] E. Kalkhoven,et al. Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants. , 2019, Biochimica et biophysica acta. Molecular and cell biology of lipids.
[8] C. López-Otín,et al. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome , 2018, Journal of Medical Genetics.
[9] Ş. Savaş-Erdeve,et al. Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. , 2017, Metabolism: clinical and experimental.
[10] C. Vigouroux,et al. Clinical Utility Gene Card for: Familial partial lipodystrophy , 2017, European Journal of Human Genetics.
[11] F. Hisama,et al. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli–Seip syndrome , 2017, American journal of medical genetics. Part A.
[12] D. Dunger,et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline , 2016, The Journal of clinical endocrinology and metabolism.
[13] F. Travert,et al. One‐year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes , 2016, Diabetes, obesity & metabolism.
[14] E. Oral,et al. Efficacy and Safety of Metreleptin in Patients with Partial Lipodystrophy: Lessons from an Expanded Access Program , 2016, Journal of diabetes & metabolism.
[15] P. Gorden,et al. Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. , 2015, The Journal of clinical endocrinology and metabolism.
[16] J. Santos,et al. Divergent Metabolic Phenotype between Two Sisters with Congenital Generalized Lipodystrophy Due to Double AGPAT2 Homozygous Mutations. A Clinical, Genetic and In Silico Study , 2014, PloS one.
[17] J. Chan,et al. The clinical approach to the detection of lipodystrophy - an AACE consensus statement. , 2013, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.
[18] C. Quittner,et al. Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety. , 2012, The Journal of clinical endocrinology and metabolism.
[19] P. Robinson,et al. Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene , 2011, American journal of medical genetics. Part A.
[20] P. Gorden,et al. Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. , 2007, Metabolism: clinical and experimental.
[21] R. Hegele,et al. A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy. , 2004, The Journal of clinical endocrinology and metabolism.
[22] P. Gorden,et al. Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy , 2019, Endocrine.