These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1. Che R; Wang C; Zheng B; Zhang X; Ding G; Zhao F; Jia Z; Zhang A; Huang S; Feng Q BMC Pediatr; 2020 May; 20(1):218. PubMed ID: 32410653 [TBL] [Abstract][Full Text] [Related]
6. Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report. Tong K; Yu GS BMC Neurol; 2021 Jan; 21(1):42. PubMed ID: 33514355 [TBL] [Abstract][Full Text] [Related]
7. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Michot C; Hubert L; Brivet M; De Meirleir L; Valayannopoulos V; Müller-Felber W; Venkateswaran R; Ogier H; Desguerre I; Altuzarra C; Thompson E; Smitka M; Huebner A; Husson M; Horvath R; Chinnery P; Vaz FM; Munnich A; Elpeleg O; Delahodde A; de Keyzer Y; de Lonlay P Hum Mutat; 2010 Jul; 31(7):E1564-73. PubMed ID: 20583302 [TBL] [Abstract][Full Text] [Related]
8. Normal human adipose tissue functions and differentiation in patients with biallelic Pelosi M; Testet E; Le Lay S; Dugail I; Tang X; Mabilleau G; Hamel Y; Madrange M; Blanc T; Odent T; McMullen TPW; Alfò M; Brindley DN; de Lonlay P J Lipid Res; 2017 Dec; 58(12):2348-2364. PubMed ID: 28986436 [TBL] [Abstract][Full Text] [Related]
9. A rare case of adult onset LPIN1 associated rhabdomyolysis. Minton T; Forrester N; Baba SA; Urankar K; Brady S Neuromuscul Disord; 2020 Mar; 30(3):241-245. PubMed ID: 32115342 [TBL] [Abstract][Full Text] [Related]
10. A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey. Topal S; Köse MD; Ağın H; Sarı F; Çolak M; Atakul G; Karaarslan U; İşgüder R Turk J Pediatr; 2020; 62(4):647-651. PubMed ID: 32779418 [TBL] [Abstract][Full Text] [Related]
11. Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome. Kahraman AB; Karakaya B; Yıldız Y; Kamaci S; Kesici S; Simsek-Kiper PO; Kurt-Sukur ED; Bayrakcı B; Haliloglu G Neuromuscul Disord; 2022 Dec; 32(11-12):931-934. PubMed ID: 36195520 [TBL] [Abstract][Full Text] [Related]
12. Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency? Renard P; Caccavelli L; Legendre A; Tuchmann-Durand C; Balakirouchenane D; Blanchet B; Narjoz C; Straube M; Hubas A; Garros A; Mention K; Bednarek N; Goudin N; Broissand C; Schlatter J; Cisternino S; Cagnard N; van Endert P; Diana J; de Calbiac H; de Lonlay P Biomed Pharmacother; 2023 Jul; 163():114813. PubMed ID: 37150031 [TBL] [Abstract][Full Text] [Related]
16. Cardiac function and exercise adaptation in 8 children with LPIN1 mutations. Legendre A; Khraiche D; Ou P; Mauvais FX; Madrange M; Guemann AS; Jais JP; Bonnet D; Hamel Y; de Lonlay P Mol Genet Metab; 2018 Mar; 123(3):375-381. PubMed ID: 29325813 [TBL] [Abstract][Full Text] [Related]
17. Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis. Summerlin ML; Regier DS; Fraser JL; Chapman KA; Kafashzadeh D; Billington C; Kisling M; Grochowsky A; Ah Mew N; Shur N Am J Med Genet A; 2021 Feb; 185(2):500-507. PubMed ID: 33300687 [TBL] [Abstract][Full Text] [Related]
18. Lipin-1 Deficiency-Associated Recurrent Rhabdomyolysis and Exercise-Induced Myalgia Persisting into Adulthood: A Case Report and Review of Literature. Indika NLR; Vidanapathirana DM; Jasinge E; Waduge R; Shyamali NLA; Perera PPR Case Rep Med; 2020; 2020():7904190. PubMed ID: 32549891 [TBL] [Abstract][Full Text] [Related]
19. Fatal rhabdomyolysis in 2 children with LPIN1 mutations. Bergounioux J; Brassier A; Rambaud C; Bustarret O; Michot C; Hubert L; Arnoux JB; Laquerriere A; Bekri S; Galene-Gromez S; Bonnet D; Hubert P; de Lonlay P J Pediatr; 2012 Jun; 160(6):1052-4. PubMed ID: 22480698 [TBL] [Abstract][Full Text] [Related]
20. Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis. Finsterer J; Aliyev R F1000Res; 2020; 9():15. PubMed ID: 32913636 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]