Disease: Congenital generalized lipodystrophy type 2
- A murine model of BSCL2-associated Celia's encephalopathy
- A new mutation in the <em>CAVIN1/PTRF</em> gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
- A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
- A Rare Case of Congenital Generalized Lipodystrophy
- A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation
- A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation
- A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation
- Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy
- Acquired generalized lipodystrophy in a juvenile dermatomyositis patient
- Across-species benefits of adrenalectomy on congenital generalized lipoatrophic diabetes: a review
- AGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway
- Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
- Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries
- Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy
- Autoimmunity in lipodystrophy syndromes
- Berardinelli Seip Syndrome: A rare case report
- Berardinelli-Seip Congenital Lipodystrophy - A Case Report and Review of Literature
- Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia
- Bone Mineral Density in Congenital Generalized Lipodystrophy: The Role of Bone Marrow Tissue, Adipokines, and Insulin Resistance
- Bscl2 Deficiency Does Not Directly Impair the Innate Immune Response in a Murine Model of Generalized Lipodystrophy
- BSCL2/Seipin deficiency in hearts causes cardiac energy deficit and dysfunction via inducing excessive lipid catabolism
- Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
- Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4
- Caveolar dysfunction and lipodystrophies
- Celia's Encephalopathy (<em>BSCL2</em>-Gene-Related): Current Understanding
- Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy
- Child With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges
- Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
- Coexistence of Colon Perforation and Congenital Lipodystrophy
- Congenital Generalized Lipodystrophy in a Division 1 Female Sprinter
- Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report
- Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution
- Coronary arterial calcification in patients with congenital generalised lipodystrophy: A case series
- Course of lipaemia retinalis in acquired generalised lipodystrophy
- Delayed Presentation of Berardinelli-Siep Lipodystrophy in an Adolescent Female
- Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey
- Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center
- Effect of Leptin Therapy on Survival in Generalized and Partial Lipodystrophy: A Matched Cohort Analysis
- Effects of Metreleptin in Patients with Generalized Lipodystrophy Before vs After the Onset of Severe Metabolic Disease
- Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies
- Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia
- Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
- Gene therapy restores adipose tissue and metabolic health in a pre-clinical mouse model of lipodystrophy
- Generalized lipoatrophy syndromes
- Generalized lipodystrophies: Clinical characterization and physiopathology
- Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2
- Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in <em>C. elegans</em>
- Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in C. elegans
- Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans
- Identification of ibuprofen targeting CXCR family members to alleviate metabolic disturbance in lipodystrophy based on bioinformatics and in vivo experimental verification
- Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO
- Impaired functional exercise capacity and greater cardiovascular response to the 6-min walk test in congenital generalized lipodystrophy
- Impaired signaling pathways on Berardinelli-Seip congenital lipodystrophy macrophages during Leishmania infantum infection
- Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis
- Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report
- Isolated Congenital Lower Limb Lipoatrophy: A Case Report and Literature Review
- Leptin Attenuates Cardiac Hypertrophy in Patients With Generalized Lipodystrophy
- Leptin Improves Parameters of Brown Adipose Tissue Thermogenesis in Lipodystrophic Mice
- Lipid Metabolism in Cancer: The Role of Acylglycerolphosphate Acyltransferases (AGPATs)
- Lipodystrophic gene Agpat2 deficiency aggravates hyperlipidemia and atherosclerosis in Ldlr<sup>-/-</sup> mice
- Lipodystrophies
- Lipodystrophies
- Lipodystrophies in Children
- Lipodystrophy for the Diabetologist-What to Look For
- Liver transplantation in patient with Berardinelli-Seip syndrome: A literature review and case report
- Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations
- Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
- Lysophosphatidic acid triggers inflammation in the liver and white adipose tissue in rat models of 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 deficiency and overnutrition
- Metabolic and other morbid complications in congenital generalized lipodystrophy type 4
- Metreleptin (Myalepta): CADTH Reimbursement Recommendation: Indication: As an adjunct to diet as a replacement therapy to treat the complications of leptin deficiency in lipodystrophy (LD) patients: with confirmed congenital generalised LD (Berardinelli-S
- Metreleptin replacement treatment improves quality of life and psychological well-being in congenital generalized lipodystrophy
- Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the <em>BSCL2</em> Gene; The First-year Results
- Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the <em>BSCL2</em> Gene: Results From the First-year
- Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
- Misdiagnosis of Paget's Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report
- Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
- Not Enough Fat: Mouse Models of Inherited Lipodystrophy
- Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy
- Perilipin 1 Antibodies in Patients With Acquired Generalized Lipodystrophy
- Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy
- Plasma signatures of Congenital Generalized Lipodystrophy patients identified by untargeted lipidomic profiling are not changed after a fat-containing breakfast meal
- Preclinical, randomized phase 1, and compassionate use evaluation of REGN4461, a leptin receptor agonist antibody for leptin deficiency
- Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?
- Rare case of congenital generalized lipodystrophy type 1
- Reduced Endothelial Leptin Signaling Increases Vascular Adrenergic Reactivity in a Mouse Model of Congenital Generalized Lipodystrophy
- Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy
- Regulated adipose tissue-specific expression of human <em>AGPAT2</em> in lipodystrophic <em>Agpat2</em>-null mice results in regeneration of adipose tissue
- Regulated regeneration of adipose tissue in lipodystrophic <em>Agpat2</em>-null mice partially ameliorates hepatic steatosis
- RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
- Role of Seipin in Human Diseases and Experimental Animal Models
- SARS-COV-2 infection outcomes in patients with congenital generalized lipodystrophy
- Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa
- Severe aortic stenosis during leptin replacement therapy in a patient with generalized lipodystrophy-associated progeroid syndrome due to an LMNA variant: A case report
- Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4
- Targeted massively parallel sequencing for congenital generalized lipodystrophy
- The neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: a case report
- Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network
- Treatment Options for Lipodystrophy in Children
- Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation
- Unusual magnetic resonance imaging findings of cystic bone lesions in congenital generalized lipodystrophy