Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

por Özen, Samim, Akıncı, Barış, Oral, Elif A.
Publicado 2020

Abnormal Non Esterified Fatty Acid Suppression After a Mixed Meal Test in Patients With Partial Lipodystrophy

por de Freitas, Maria Cristina Foss, Akinci, Baris, Oral, Elif A
Publicado 2021

Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide

por Akinci, Baris, Sankella, Shireesha, Gilpin, Christopher, Ozono, Keiichi, Garg, Abhimanyu, Agarwal, Anil K.
Publicado 2017

Inhibition of Angiopoietin-Like 3 (ANGPTL3) Reduces Adipose Tissue Insulin Resistance in Patients With Familial Partial Lipodystrophy

por de Freitas, Maria Cristina Foss, Akinci, Baris, Neidert, Adam, Hench, Rita, Oral, Elif A
Publicado 2021

SAT-617 Potential Utility of the Mixed Meal Test for Differential Diagnosis of Partial Lipodystrophy from Common Type 2 Diabetes and Truncal Obesity

por Guraya, Armaan, de Freitas, Maria Cristina Foss, Akinci, Baris, Eldin, Abdelwahab Jalal, Oral, Elif A
Publicado 2020

SUN-600 Presence of LMNA p.R582H Pathogenic Variant in Homozygous State Demonstrates Gene Dosage Effect on the Severity of Fat Loss in Lipodystrophy

por Soyaltin, Utku Erdem, Simsir, Ilgin Yildirim, Akinci, Baris, Altay, Canan, Adiyaman, Suleyman Cem, Oral, Elif A
Publicado 2020

SAT-574 Whole Exome Sequencing Identifies Several Variants Associated with Immune Deficiency, Inflammasomopathy and Non-Ischemic Dilated Cardiomyopathy in a Complex Case of Acquire...

por Brandao, Marjorie Azevedo Jales, de Freitas, Maria Cristina Foss, Akinci, Baris, Hannibal, Mark, Walkovich, Kelly, Oral, Elif A
Publicado 2020

SAT-622 Heterogeneity of Familial Partial Lipodystrophy Type 2 from a Genotype-Phenotype Perspective

por de Freitas, Maria Cristina Foss, Eldin, Abdelwahab Jalal, Akinci, Baris, Corsa, Callie, MacDougald, Ormond A, Oral, Elif A
Publicado 2020

Body Composition And Bone Mineral Differences According to Lamin A (LMNA) Genotype in Familial Partial Lipodystrophy Type 2

por de Freitas, Maria Cristina Foss, Akinci, Baris, Corsa, Callie, Rothberg, Amy E, MacDougald, Ormond A, Oral, Elif A
Publicado 2021

Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study

por Foss-Freitas, Maria C., Akinci, Baris, Neidert, Adam, Bartlett, Victoria J., Hurh, Eunju, Karwatowska-Prokopczuk, Ewa, Oral, Elif A.
Publicado 2021

Biomarkers and cytokines of bone turnover: extensive evaluation in a cohort of patients with ankylosing spondylitis

por Taylan, Ali, Sari, Ismail, Akinci, Baris, Bilge, Safak, Kozaci, Didem, Akar, Servet, Colak, Ayfer, Yalcin, Hulya, Gunay, Necati, Akkoc, Nurullah
Publicado 2012

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy

por Soyaltin, Utku Erdem, Simsir, Ilgin Yildirim, Akinci, Baris, Altay, Canan, Adiyaman, Suleyman Cem, Lee, Kristen, Onay, Huseyin, Oral, Elif Arioglu
Publicado 2020

MON-101 The LD Lync Study: Natural History Study of Lipodystrophy Syndromes: Early Lessons from the Pilot Data

por Jalal Eldin, Abdelwahab, Akinci, Baris, Meral, Rasimcan, Rus, Diana, Swaidan, Mario, Hench, Rita, Neidert, Adam, Stratton, Andra, Spino, Cathie, Oral, Elif
Publicado 2019

OR33-02 The Treatment of Partial Lipodystrophy in the Setting of Neutralizing Antibody Against Metreleptin with Leptin Receptor Agonist REGN4461

por Akinci, Baris, de Freitas, Maria Cristina Foss, Baker, Mark, Hench, Rita, Neidert, Adam, Boutros, Sabine, Akinci, Efe Yagiz, Oral, Elif A
Publicado 2020

The complicated clinical course in a case of atypical lipodystrophy after development of neutralizing antibody to metreleptin: treatment with setmelanotide

por Akinci, Baris, Meral, Rasimcan, Rus, Diana, Hench, Rita, Neidert, Adam H, DiPaola, Frank, Westerhoff, Maria, Taylor, Simeon I, Oral, Elif A
Publicado 2020

SUN-607 Iron Parameters in Patients with Partial Lipodystrophy and Impact of Metreleptin Therapy

por Boutros, Sabine, Akinci, Efe Yagiz, Ryan, Benjamin, Sargin, Pinar, Akinci, Baris, Swaidan, Mario, Neidert, Adam, Hench, Rita, Horowitz, Jeffrey, Oral, Elif A
Publicado 2020

OR17-02 Changes in Hepatokines and Apolipoproteins Are Associated with Metabolic Response to Metreleptin in Partial Lipodystrophy

por Akinci, Baris, Ajluni, Nevin, Eldin, Abdelwahab Jalal, Swaidan, Mario, Hench, Rita, Neidert, Adam, Luo, Yingying, de Freitas, Maria Cristina Foss, Oral, Elif A
Publicado 2020

Iron parameters in patients with partial lipodystrophy and impact of exogenous leptin therapy

por Akinci, Efe Y, Boutros, Sabine, Ryan, Benjamin J, Sargin, Pinar, Akinci, Baris, Neidert, Adam H, Hench, Rita, Horowitz, Jeffrey F, Oral, Elif A
Publicado 2021

Untangling the Heterogeneity of Acquired Generalized Lipodystrophy

por Cavdar, Umit, Akinci, Baris, Foss de Freitas, Maria Cristina, Conjeevaram, Hari, Fox, David, Fontana, Robert, Tayeh, Marwan, Frame, David, Innis, Jeffrey, Walkovich, Kelly, Oral, Elif A
Publicado 2021

FRI059 Long-term Follow-up On Partial Lipodystrophy Treated With Leptin Receptor Agonist Mibavademab(REGN4461)

por Foss de Freitas, Maria Cristina, DillGomes, Anabela, Neidert, Adam, Podgrabinska, Simona, Olenchock, Ben, SinhaRoy, Rababir, Harris, Charles Andrew, Akinci, Baris, Altarejos, Judith, Oral, Elif A
Publicado 2023