脂肪萎縮性糖尿病
- 関
- lipoatrophic diabetes
WordNet
- a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst
PrepTutorEJDIC
- 糖尿病(尿に糖が異常に出る病気)
UpToDate Contents
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English Journal
- Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
- Dyment DA1, Gibson WT2, Huang L3, Bassyouni H4, Hegele RA5, Innes AM6.
- European journal of medical genetics.Eur J Med Genet.2014 Jun 28. pii: S1769-7212(14)00138-4. doi: 10.1016/j.ejmg.2014.06.006. [Epub ahead of print]
- We present an individual with a generalized and infantile onset lipodystrophy who later developed hypertriglyceridemia, pancreatitis, refractory diabetes, irregular menses and renal failure. She showed the hallmark features of a congenital, generalized lipodystrophy (CGL). Sequencing PPARG identifie
- PMID 24980513
- Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
- Schuster J, Khan TN, Tariq M, Shaiq PA, Mäbert K, Baig SM, Klar J1.
- BMC medical genetics.BMC Med Genet.2014 Jun 24;15(1):71. doi: 10.1186/1471-2350-15-71.
- BACKGROUND: Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical information is limited or unspecific as well as in cases of genetic heterogeneity.METH
- PMID 24961962
- Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps.
- Agrawala RK, Choudhury AK, Mohanty BK, Baliarsinha AK.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2014 May 13. pii: /j/jpem.ahead-of-print/jpem-2013-0399/jpem-2013-0399.xml. doi: 10.1515/jpem-2013-0399. [Epub ahead of print]
- Abstract Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by a nearly complete absence of adipose tissue and generalized muscular appearance. This condition is associated with various dermatological and systemic manifestations. We report a 5-year
- PMID 24825083
Japanese Journal
- Lipoatrophic diabetes. Report of a case
- Sarai Tetsuo,Kawanishi Koichi,Saito Yoshihito,Aoi Katsuyuki,Nishina Yoshiaki,Ofuji Tadashi
- Acta Medica Okayama 32(4), 1978-08
- … At 12 years of age, the onset of diabetes mellitus was speculated from advanced pyodermia and dedentition. …
- NAID 120002313280
Related Links
- lipoatrophic diabetes [lip′ō·atrof′ik] an inherited disease characterized by a total loss of subcutaneous body fat, insulin-resistant diabetes mellitus, acanthosis nigricans, hypermetabolism, hepatomegaly, and hypertrophied musculature.
- Millions of Americans are afflicted by obesity and type 2 diabetes mellitus. Obesity is characterized by increased body adiposity and leads to insulin resistance. Paradoxically, some conditions that a ... Foster, DW The ...
Related Pictures
★リンクテーブル★
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脂肪萎縮性糖尿病
- 関
- lipoatrophic diabetes mellitus
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- 英
- lipoatrophic diabetes、lipoatrophic diabetes mellitus
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脂肪萎縮性糖尿病
- 関
- lipoatrophic diabetes mellitus
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- 関
- 糖尿病 diabetes mellitus DM