173 related articles for article (PubMed ID: 35735786)
1. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the
Özalkak Ş; Demiral M; Ünal E; Taş FF; Onay H; Demirbilek H; Özbek MN
J Clin Res Pediatr Endocrinol; 2023 Aug; 15(3):329-333. PubMed ID: 35735786
[TBL] [Abstract][Full Text] [Related]
2. Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
Nishiyama A; Yagi M; Awano H; Okizuka Y; Maeda T; Yoshida S; Takeshima Y; Matsuo M
Pediatr Int; 2009 Dec; 51(6):775-9. PubMed ID: 19438831
[TBL] [Abstract][Full Text] [Related]
3. A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.
Huang HH; Chen TH; Hsiao HP; Huang CT; Wang CC; Shiau YH; Chao MC
Kaohsiung J Med Sci; 2010 Nov; 26(11):615-20. PubMed ID: 21126715
[TBL] [Abstract][Full Text] [Related]
4. Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.
Shirwalkar HU; Patel ZM; Magre J; Hilbert P; Van Maldergem L; Mukhopadhyay RR; Maitra A
J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S317-22. PubMed ID: 18690553
[TBL] [Abstract][Full Text] [Related]
5. Metreleptin replacement treatment improves quality of life and psychological well-being in congenital generalized lipodystrophy.
Simsir IY; Yurekli BS; Polat I; Saygili F; Akinci B
Natl Med J India; 2020; 33(5):278-280. PubMed ID: 34213454
[TBL] [Abstract][Full Text] [Related]
6. A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.
Ye JY; Huang AJ; Fu ZZ; Gong YY; Yang HY; Zhou HW
Yi Chuan; 2022 Oct; 44(10):926-936. PubMed ID: 36384728
[TBL] [Abstract][Full Text] [Related]
7. Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.
Adiyaman SC; V Schnurbein J; De Laffolie J; Hahn A; Siebert R; Wabitsch M; Kamrath C
J Pediatr Endocrinol Metab; 2022 Jul; 35(7):946-952. PubMed ID: 35405042
[TBL] [Abstract][Full Text] [Related]
8. Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
Liu Y; Li D; Ding Y; Kang L; Jin Y; Song J; Li H; Yang Y
Eur J Med Genet; 2019 Sep; 62(9):103542. PubMed ID: 30266686
[TBL] [Abstract][Full Text] [Related]
9. Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B; Onay H; Demir T; Ozen S; Kayserili H; Akinci G; Nur B; Tuysuz B; Nuri Ozbek M; Gungor A; Yildirim Simsir I; Altay C; Demir L; Simsek E; Atmaca M; Topaloglu H; Bilen H; Atmaca H; Atik T; Cavdar U; Altunoglu U; Aslanger A; Mihci E; Secil M; Saygili F; Comlekci A; Garg A
J Clin Endocrinol Metab; 2016 Jul; 101(7):2759-67. PubMed ID: 27144933
[TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
Chen R; Yuan X; Wang J; Zhang Y
Gene; 2017 Dec; 637():57-62. PubMed ID: 28916377
[TBL] [Abstract][Full Text] [Related]
11. Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
Su X; Lin Y; Liu L; Mei H; Xu A; Zeng C; Sheng H; Cheng J; Shao Y; Zheng R; Ting TH; Zhang W; Li X
J Pediatr Endocrinol Metab; 2023 Jan; 36(1):74-80. PubMed ID: 36433712
[TBL] [Abstract][Full Text] [Related]
12. [Unusual facies and recurrent high triglycerides for more than one year in a girl].
Yin ZX; He XL; Zou RY
Zhongguo Dang Dai Er Ke Za Zhi; 2018 Dec; 20(12):1050-1054. PubMed ID: 30572997
[TBL] [Abstract][Full Text] [Related]
13. A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.
Fukaishi T; Minami I; Masuda S; Miyachi Y; Tsujimoto K; Izumiyama H; Hashimoto K; Yoshida M; Takahashi S; Kashimada K; Morio T; Kosaki K; Maezawa Y; Yokote K; Yoshimoto T; Yamada T
Endocr J; 2020 Feb; 67(2):211-218. PubMed ID: 31708526
[TBL] [Abstract][Full Text] [Related]
14. Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin.
Diker-Cohen T; Cochran E; Gorden P; Brown RJ
J Clin Endocrinol Metab; 2015 May; 100(5):1802-10. PubMed ID: 25734254
[TBL] [Abstract][Full Text] [Related]
15. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.
Jin J; Cao L; Zhao Z; Shen S; Kiess W; Zhi D; Ye R; Cheng R; Chen L; Yang Y; Luo F
Eur J Endocrinol; 2007 Dec; 157(6):783-7. PubMed ID: 18057387
[TBL] [Abstract][Full Text] [Related]
16. Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
Xie B; Fan X; Lei Y; Yi S; Yang Q; Wang J; Qin Z; Shen F; Luo J; Shen Y
Mol Med Rep; 2020 Jun; 21(6):2296-2302. PubMed ID: 32236581
[TBL] [Abstract][Full Text] [Related]
17. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.
Rahman OU; Khawar N; Khan MA; Ahmed J; Khattak K; Al-Aama JY; Naeem M; Jelani M
Diagn Pathol; 2013 May; 8():78. PubMed ID: 23659685
[TBL] [Abstract][Full Text] [Related]
18. Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.
Pedicelli S; de Palma L; Pelosini C; Cappa M
Ital J Pediatr; 2020 Oct; 46(1):158. PubMed ID: 33099310
[TBL] [Abstract][Full Text] [Related]
19. Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.
Simha V; Agarwal AK; Aronin PA; Iannaccone ST; Garg A
Am J Med Genet A; 2008 Sep; 146A(18):2318-26. PubMed ID: 18698612
[TBL] [Abstract][Full Text] [Related]
20. Seipin ablation in mice results in severe generalized lipodystrophy.
Cui X; Wang Y; Tang Y; Liu Y; Zhao L; Deng J; Xu G; Peng X; Ju S; Liu G; Yang H
Hum Mol Genet; 2011 Aug; 20(15):3022-30. PubMed ID: 21551454
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
