B-complex vitamins for patients with TANGO2-deficiency disorder.
作者信息
Sandkuhler Sarah E, Zhang Lilei, Meisner Joshua K, Ghaloul-Gonzalez Lina, Beach Cheyenne M, Harris David, de Lonlay Pascale, Lalani Seema R, Miyake Christina Y, Mackenzie Samuel J
机构信息
Department of Pathology, University of Rochester Medical Center, Rochester, New York, USA.
TANGO2 Research Foundation, Clinical Advisory Board, Middletown, Connecticut, USA.
出版信息
J Inherit Metab Dis. 2023 Mar;46(2):161-162. doi: 10.1002/jimd.12585. Epub 2022 Dec 30.
Abstract
摘要
相似文献
1
B-complex vitamins for patients with TANGO2-deficiency disorder.
J Inherit Metab Dis. 2023 Mar;46(2):161-162. doi: 10.1002/jimd.12585. Epub 2022 Dec 30.
2
[Stretch marks in pregnancy and vitamin A deficiency].
Union Med Can. 1948 Aug;77(8):916-20.
3
[Deficiency of folic acid and vitamin K in symptomatic sprue].
Nord Med. 1949 Mar 4;41(9):420.
4
[The vitamin B complex in relation to angular stomatitis].
Sven Tandlak Tidskr. 1950;43(1-2):27-41.
5
[Clinical and biological importance of vitamins, B complex].
Hospital (Rio J). 1948 Sep;34(3):391-3.
6
The anti-vitamins and the B complex.
J Bowman Gray Sch Med Wake For Coll. 1948 Feb;6(1):1-8.
7
Vitamin B6 deficiency in the Syrian hamster.
J Nutr. 1949 Jun;38(2):131-53. doi: 10.1093/jn/38.2.131.
8
Anti-B-vitamins.
Br J Nutr. 1949;2(4):373-95. doi: 10.1079/bjn19480067.
9
[Role of vitamins in etiology, pathogenesis, and therapy of skin diseases; vitamin B complex].
Przegl Dermatol. 1952 Jul-Sep;2(3):531-9; concl.
10
Absorption in sprue of vitamins of the B complex.
Lancet. 1956 Oct 6;271(6945):700-1. doi: 10.1016/s0140-6736(56)92386-8.
引用本文的文献
1
TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant.
Mol Genet Metab Rep. 2025 Jul 4;44:101241. doi: 10.1016/j.ymgmr.2025.101241. eCollection 2025 Sep.
2
TANGO2 is an acyl-CoA binding protein.
J Cell Biol. 2025 May 5;224(5). doi: 10.1083/jcb.202410001. Epub 2025 Feb 27.
3
Emergency Management of Intoxication-Type Inherited Metabolic Disorders.
J Inherit Metab Dis. 2025 Mar;48(2):e70007. doi: 10.1002/jimd.70007.
4
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.
Autophagy Rep. 2024 Feb 1;3(1). doi: 10.1080/27694127.2024.2306766. eCollection 2024 Dec 31.
5
Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder.
JCI Insight. 2024 Jun 10;9(11):e171005. doi: 10.1172/jci.insight.171005.
6
TANGO2 deficiency disease is predominantly caused by a lipid imbalance.
Dis Model Mech. 2024 Jun 1;17(6). doi: 10.1242/dmm.050662. Epub 2024 Jun 5.
7
Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.
Am J Med Genet A. 2024 Oct;194(10):e63778. doi: 10.1002/ajmg.a.63778. Epub 2024 Jun 3.
8
: A Rare but Important Mutation.
J Innov Card Rhythm Manag. 2024 May 15;15(5):5871-5875. doi: 10.19102/icrm.2024.15054. eCollection 2024 May.
9
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.
Am J Med Genet A. 2024 Sep;194(9):e63633. doi: 10.1002/ajmg.a.63633. Epub 2024 Apr 18.
10
Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism.
Elife. 2023 Mar 24;12:e85345. doi: 10.7554/eLife.85345.
本文引用的文献
1
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med. 2023 Apr;25(4):100352. doi: 10.1016/j.gim.2022.11.020. Epub 2022 Dec 5.
2
HRG-9 homologues regulate haem trafficking from haem-enriched compartments.
Nature. 2022 Oct;610(7933):768-774. doi: 10.1038/s41586-022-05347-z. Epub 2022 Oct 19.
3
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19.
4
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21.
5
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21.
Zotero 插件