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glycogen storage disease type XI相关文献:
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome).
PMID:
The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI.
Trepiccione F, Iervolino A, D'Acierno M, Siccardi S, Costanzo V, Sardella D, De La Motte LR, D'Apolito L, Miele A, Perna AF, Capolongo G, Zacchia M, Frische S, Nielsen R, Staiano L, Sambri I, De Cegli R, Unwin R, Eladari D, Capasso G.
Sci Transl Med. 2023 Nov;15(720):eabn4214. doi: 10.1126/scitranslmed.abn4214. Epub 2023 Nov 1.
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Fanconi Syndrome.
Foreman JW.
Pediatr Clin North Am. 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002.
PMID:30454741
Inherited Fanconi syndrome.
Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC.
World J Pediatr. 2023 Jul;19(7):619-634. doi: 10.1007/s12519-023-00685-y. Epub 2023 Feb 2.
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Am J Kidney Dis. 2003 Feb;41(2):292-309. doi: 10.1053/ajkd.2003.50037.
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Drug-induced renal Fanconi syndrome.
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QJM. 2014 Apr;107(4):261-9. doi: 10.1093/qjmed/hct258. Epub 2013 Dec 24.
PMID:24368854
Therapy of cystinosis.
Schneider JA.
N Engl J Med. 1985 Dec 5;313(23):1473-4. doi: 10.1056/NEJM198512053132309.
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PMID:4927080
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Ryoikibetsu Shokogun Shirizu. 1997;(16 Pt 1):605-11.
PMID:9277827
Extrarenal complications of cystinosis.
Topaloglu R.
Pediatr Nephrol. 2024 Aug;39(8):2283-2292. doi: 10.1007/s00467-023-06225-0. Epub 2023 Dec 21.
PMID:38127152
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