Literature DB >> 7379417

[A case of partial lipodystrophy with erythema, dactylic deformities, calcification of the basal ganglia, immunological disorders and low IQ level (author's transl)].

A Horikoshi, S Iwabuchi, Y Iizuka, T Hagiwara, I Amaki.   

Abstract

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Year:  1980        PMID： 7379417

Source DB:  PubMed          Journal:  Rinsho Shinkeigaku        ISSN： 0009-918X


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  5 in total

1.  An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

Authors:  Abhimanyu Garg; Maria Dolores Hernandez; Ana Berta Sousa; Lalitha Subramanyam; Laura Martínez de Villarreal; Heloísa G dos Santos; Oralia Barboza
Journal:  J Clin Endocrinol Metab       Date:  2010-06-09       Impact factor: 5.958

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

Authors:  Anil K Agarwal; Chao Xing; George N DeMartino; Dario Mizrachi; Maria Dolores Hernandez; Ana Berta Sousa; Laura Martínez de Villarreal; Heloísa G dos Santos; Abhimanyu Garg
Journal:  Am J Hum Genet       Date:  2010-12-10       Impact factor: 11.025

3.  Membranous lipodystrophy. A case report.

Authors:  T Matsuo; M Suetsugu; M Eguchi; M Sasaki; M Tsuneyoshi
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1982

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

Authors:  Kazuhiko Arima; Akira Kinoshita; Hiroyuki Mishima; Nobuo Kanazawa; Takeumi Kaneko; Tsunehiro Mizushima; Kunihiro Ichinose; Hideki Nakamura; Akira Tsujino; Atsushi Kawakami; Masahiro Matsunaka; Shimpei Kasagi; Seiji Kawano; Shunichi Kumagai; Koichiro Ohmura; Tsuneyo Mimori; Makito Hirano; Satoshi Ueno; Keiko Tanaka; Masami Tanaka; Itaru Toyoshima; Hirotoshi Sugino; Akio Yamakawa; Keiji Tanaka; Norio Niikawa; Fukumi Furukawa; Shigeo Murata; Katsumi Eguchi; Hiroaki Ida; Koh-Ichiro Yoshiura
Journal:  Proc Natl Acad Sci U S A       Date:  2011-08-18       Impact factor: 11.205

5.  An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.

Authors:  K Oyanagi; K Sasaki; E Ohama; F Ikuta; A Kawakami; N Miyatani; T Miyatake; S Yamada
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088
  5 in total

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