Diagnosis and treatment of lipodystrophy: a step-by-step approach

Effects of Metreleptin in Pediatric Patients With Lipodystrophy

(2017) Rebecca J. Brown et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Acquired partial lipodystrophy after bone marrow transplant during childhood: a novel syndrome to be added to the disease classification list

(2017) G. Ceccarini et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

(2017) Antonio Torrelo   Frontiers in Immunology

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges

(2017) Elaine Chiquette et al.   Diabetes Metabolic Syndrome and Obesity-Targets and Therapy

HomozygousLIPEmutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy

(2016) Sagit Zolotov et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Leptin Substitution in Patients With Lipodystrophy: Neural Correlates for Long-term Success in the Normalization of Eating Behavior

(2016) Haiko Schlögl et al.   DIABETES

Lipodystrophy Syndromes

(2016) Iram Hussain et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies

(2016) Emmanuelle Nicolas et al.   GENE

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

(2016) Rebecca J. Brown et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200)

(2016) Yousif Nijim et al.   MEDICINE

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance

(2016) Luca A Lotta et al.   NATURE GENETICS

Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy

(2016) Josivan G. Lima et al.   Diabetology & Metabolic Syndrome

Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

(2015) Andrea Masotti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome

(2015) Abhimanyu Garg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma

(2015) Nivedita Patni et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Partial and Generalized Lipodystrophy: Comparison of Baseline Characteristics and Response to Metreleptin

(2015) Talia Diker-Cohen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Lymphoma in acquired generalized lipodystrophy

(2015) Rebecca J. Brown et al.   LEUKEMIA & LYMPHOMA

Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities

(2015) Baris Akinci et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

HIV/AIDS and lipodystrophy: Implications for clinical management in resource-limited settings

(2015) Julia L Finkelstein et al.   Journal of the International AIDS Society

Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy

(2015) Cristina Adelia Meehan et al.   Expert Review of Clinical Pharmacology

A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

(2014) Sali M.K. Farhan et al.   CANADIAN JOURNAL OF CARDIOLOGY

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome

(2014) Caterina Pelosini et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

(2014) Davor Lessel et al.   NATURE GENETICS

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

(2014) F. Payne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature

(2013) J. Kluk et al.   BRITISH JOURNAL OF DERMATOLOGY

The liver diseases of lipodystrophy: The long-term effect of leptin treatment

(2013) Elika Safar Zadeh et al.   JOURNAL OF HEPATOLOGY

A new seipin-associated neurodegenerative syndrome

(2013) Encarna Guillén-Navarro et al.   JOURNAL OF MEDICAL GENETICS

Cockayne syndrome: The expanding clinical and mutational spectrum

(2013) Vincent Laugel   MECHANISMS OF AGEING AND DEVELOPMENT

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

(2013) Michael N Weedon et al.   NATURE GENETICS

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

(2013) Bruno Donadille et al.   Orphanet Journal of Rare Diseases

How to diagnose a lipodystrophy syndrome

(2012) Marie-Christine Vantyghem et al.   ANNALES D ENDOCRINOLOGIE

Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations

(2011) Rubén Cabanillas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations

(2011) Guillaume Bidault et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations

(2011) D. Araújo-Vilar et al.   CLINICAL ENDOCRINOLOGY

Clinical Effects of Long-Term Metreleptin Treatment in Patients with Lipodystrophy

(2011) Jean Chan et al.   Endocrine Practice

Lipodystrophies: Genetic and Acquired Body Fat Disorders

(2011) Abhimanyu Garg   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Comparison of Efficacy and Safety of Leptin Replacement Therapy in Moderately and Severely Hypoleptinemic Patients with Familial Partial Lipodystrophy of the Dunnigan Variety

(2011) Vinaya Simha et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

(2011) Sheetal Gandotra et al.   NEW ENGLAND JOURNAL OF MEDICINE

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

(2011) K. Arima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24

(2010) Vicki J. Cunningham et al.   BONE

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

(2010) Abhimanyu Garg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

(2010) Antonio Torrelo et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Cardiomyopathy in Congenital and Acquired Generalized Lipodystrophy

(2010) Beatrice C. Lupsa et al.   MEDICINE

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

(2010) Anna Rajab et al.   PLoS Genetics

Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations

(2009) L Subramanyam et al.   CLINICAL GENETICS

Efficacy of leptin therapy in the different forms of human lipodystrophy

(2009) A. Y. Chong et al.   DIABETOLOGIA

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation inCIDEC

(2009) Oscar Rubio-Cabezas et al.   EMBO Molecular Medicine

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

(2009) Yukiko K. Hayashi et al.   JOURNAL OF CLINICAL INVESTIGATION

Complement Abnormalities in Acquired Lipodystrophy Revisited

(2008) David B. Savage et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM