Familial Partial Lipodystrophy
What's New
Last Posted: Nov 24, 2024
- A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.
Remya Rajan, et al. Scientific reports 2024 0 (1) 28277 - A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Antía Fernández-Pombo, et al. Diabetes, obesity & metabolism 2024 0 - Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
Aikaterini Kountouri, et al. International journal of molecular sciences 2023 0 (15) - Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
Antia Fernandez-Pombo et al. Cells 2023 12(5) - Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
Gonzaga-Jauregui Claudia, et al. Diabetes 2019 0 (2) 249-258 - Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Soyaltin Utku Erdem, et al. Clinical diabetes and endocrinology 2020 0 13 - Cardiac phenotype in familial partial lipodystrophy.
Eldin Abdelwahab Jalal, et al. Clinical endocrinology 2021 0 (6) 1043-1053 - Hypertriglyceridemia.
Chait Alan, et al. Endocrinology and metabolism clinics of North America 2022 0 (3) 539-555 - Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1.
Iwanishi Masanori, et al. Internal medicine (Tokyo, Japan) 2020 0 (20) 2529-2537 - Clinical utility of genomic analysis in adults with idiopathic liver disease.
Hakim Aaron et al. Journal of hepatology 2019 Apr
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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