The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline (Q37502548)

20 August 2017

2 references

24 March 2019

17 June 2019

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

1 reference

20 August 2017

2 references

24 March 2019

17 June 2019

0 references

15

Martin Wabitsch

0 references

Julia von Schnurbein

11

object named as

Julia von Schnurbein

0 references

Ekaterina Sorkina

object named as

Ekaterina Sorkina

12

0 references

David B. Dunger

object named as

David Dunger

4

0 references

author name string

Rebecca J Brown

1

1 reference

20 August 2017

David Araujo-Vilar

2

1 reference

20 August 2017

Pik To Cheung

3

1 reference

20 August 2017

Abhimanyu Garg

5

1 reference

20 August 2017

Michelle Jack

6

1 reference

20 August 2017

Lucy Mungai

7

1 reference

20 August 2017

Elif A Oral

8

1 reference

20 August 2017

Nivedita Patni

9

1 reference

20 August 2017

Kristina I Rother

10

1 reference

20 August 2017

Takara Stanley

13

1 reference

20 August 2017

Corinne Vigouroux

14

1 reference

20 August 2017

Rachel Williams

16

1 reference

20 August 2017

Tohru Yorifuji

17

1 reference

20 August 2017

language of work or name

English

0 references

publication date

6 October 2016

1 reference

The Journal of Clinical Endocrinology and Metabolism

20 August 2017

1 December 2016

2 references

24 March 2019

17 June 2019

3 references

20 August 2017

24 March 2019

17 June 2019

101

1 reference

20 August 2017

12

1 reference

20 August 2017

4500-4511

1 reference

Creative Commons Attribution-NonCommercial 4.0 International

20 August 2017

2 references

24 March 2019

on focus list of Wikimedia project

17 June 2019

ScienceSource

0 references

cites work

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

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Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

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PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

23 August 2017

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

23 August 2017

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Cholic acid for hepatic steatosis in patients with lipodystrophy: a randomized, controlled trial

23 August 2017

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

23 August 2017

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The clinical approach to the detection of lipodystrophy - an AACE consensus statement

23 August 2017

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Functional magnetic resonance imaging analysis of food-related brain activity in patients with lipodystrophy undergoing leptin replacement therapy

23 August 2017

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Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety

23 August 2017

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Insulin resistance is a sufficient basis for hyperandrogenism in lipodystrophic women with polycystic ovarian syndrome

23 August 2017

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Clinical effects of long-term metreleptin treatment in patients with lipodystrophy

23 August 2017

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Meta-analysis: pioglitazone improves liver histology and fibrosis in patients with non-alcoholic steatohepatitis

23 August 2017

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Clinical review#: Lipodystrophies: genetic and acquired body fat disorders

23 August 2017

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23 August 2017

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Perilipin deficiency and autosomal dominant partial lipodystrophy

23 August 2017

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PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

23 August 2017

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Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment

23 August 2017

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23 August 2017

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

23 August 2017

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

23 August 2017

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23 August 2017

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Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy.

23 August 2017

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23 August 2017

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Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy

23 August 2017

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Childhood acquired lipodystrophy: a retrospective study

23 August 2017

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Hepatic steatosis in Dunnigan-type familial partial lipodystrophy

23 August 2017

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Effects of exogenous leptin on satiety and satiation in patients with lipodystrophy and leptin insufficiency

23 August 2017

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A family with severe insulin resistance and diabetes due to a mutation in AKT2.

23 August 2017

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Acquired and inherited lipodystrophies

23 August 2017

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Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature

23 August 2017

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Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

23 August 2017

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

23 August 2017

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23 August 2017

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Köbberling type of familial partial lipodystrophy: an underrecognized syndrome

23 August 2017

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

23 August 2017

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Lamin a truncation in Hutchinson-Gilford progeria.

23 August 2017

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Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature

23 August 2017

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A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

23 August 2017

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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

23 August 2017

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

23 August 2017

1 reference

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Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy

23 August 2017

1 reference

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AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

23 August 2017

1 reference

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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

23 August 2017

1 reference

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Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension

23 August 2017

1 reference

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Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

23 August 2017

1 reference

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Hypertrophic cardiomyopathy in total lipodystrophy

23 August 2017

1 reference

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Complement abnormalities in acquired lipodystrophy revisited

6 September 2017

1 reference

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Efficacy of leptin therapy in the different forms of human lipodystrophy

14 September 2017

1 reference

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A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

26 June 2018

1 reference

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Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Effects of postmenopausal estrogen replacement on the concentrations and metabolism of plasma lipoproteins

26 June 2018

1 reference

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One-year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Effects of Recombinant Human Leptin (Metreleptin) on Nocturnal Luteinizing Hormone Secretion in Lipodystrophy Patients.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Thiazolidinedione response in familial lipodystrophy patients with LMNA mutations: a case series.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

The new joint EAS/ESC guidelines for the management of dyslipidaemias

2 September 2018

1 reference

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Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Early hypoglycaemia after accidental intramuscular injection of insulin glargine.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Insulin resistance, acanthosis nigricans, and hypertriglyceridemia.

2 September 2018

1 reference

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The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Changes in body composition in patients with severe lipodystrophy after leptin replacement therapy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

2 September 2018

1 reference

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Effect of leptin replacement on intrahepatic and intramyocellular lipid content in patients with generalized lipodystrophy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Effect of leptin replacement on pituitary hormone regulation in patients with severe lipodystrophy.

2 September 2018

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Leptin-replacement therapy for lipodystrophy.

2 September 2018

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Intensive, long-term plasma exchange therapy for severe hypertriglyceridemia in acquired generalized lipoatrophy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Premature atherosclerosis associated with monogenic insulin resistance.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Eucaloric Substitution of Medium Chain Triglycerides for Dietary Long Chain Fatty Acids in Acquired Total Lipodystrophy: Effects on Hyperlipoproteinemia and Endogenous Insulin Resistance*

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5155679

Cardiomyopathy in congenital complete lipodystrophy

3 December 2018

1 reference

12 December 2020

Breast augmentation in Familial Partial Lipodystrophy: a case report

1 reference

12 December 2020

Leptin Does Not Mediate Hypertension Associated With Human Obesity

1 reference

12 December 2020

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome

1 reference

12 December 2020

Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy

1 reference

12 December 2020

The effect of diet on thermogenesis in acquired lipodystrophy

1 reference

12 December 2020

Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy

1 reference

12 December 2020

Post-liver transplant leptin results in resolution of severe recurrence of lipodystrophy-associated nonalcoholic steatohepatitis

1 reference

12 December 2020

Familial hypertriglyceridemia in children: dietary management

1 reference

12 December 2020

Familial partial lipodystrophy complicated by pre-eclampsia

1 reference

12 December 2020

1 reference

12 December 2020

Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy

1 reference

12 December 2020

Mesangiocapillary nephritis, partial lipodystrophy, and hypocomplementaemia

1 reference

12 December 2020

American Association of Clinical Endocrinologists' Guidelines for Management of Dyslipidemia and Prevention of Atherosclerosis

1 reference

12 December 2020

[Congenital generalized lipodystrophy: a case report with neurological involvement]

1 reference

12 December 2020

Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A

1 reference

12 December 2020

Facial reconstruction in partial lipodystrophy

1 reference

12 December 2020

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2016-2466

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

27710244

1 reference