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名词信息
中 文 名:
磷酸烯醇丙酮酸蔑激酶缺乏症
英 文 名:
phosphoenolpyruvate carboxykinase deficiency
中文又称:
中文曾称:
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所属专业:
内分泌科
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Pubmed相关的文献
phosphoenolpyruvate carboxykinase deficiency
相关文献:
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
Vieira P, Nagy II, Rahikkala E, Väisänen ML, Latva K, Kaunisto K, Valmari P, Keski-Filppula R, Haanpää MK, Sidoroff V, Miettinen PJ, Arkkola T, Ojaniemi M, Nuutinen M, Uusimaa J, Myllynen P.
J Inherit Metab Dis. 2022 Mar;45(2):223-234. doi: 10.1002/jimd.12446. Epub 2021 Nov 11.
PMID:34622459
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency.
Goetz M, Schröter J, Dattner T, Brennenstuhl H, Lenz D, Opladen T, Hörster F, Okun JG, Hoffmann GF, Kölker S, Staufner C.
Mol Genet Metab. 2022 Sep-Oct;137(1-2):18-25. doi: 10.1016/j.ymgme.2022.07.007. Epub 2022 Jul 11.
PMID:35868242
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death.
Becker J, Haas NA, Vlaho S, Heineking B, Wortmann SB, Rabenhorst D, Thomas C, Brunet T.
Neuropediatrics. 2021 Oct;52(5):398-402. doi: 10.1055/s-0040-1722685. Epub 2021 Jan 14.
PMID:33445193
[Phosphoenolpyruvate carboxykinase deficiency].
Naito E.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):348-50.
PMID:9590066
Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
Leonard JV, Hyland K, Furukawa N, Clayton PT.
Eur J Pediatr. 1991 Jan;150(3):198-9. doi: 10.1007/BF01963566.
PMID:2044592
Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
Clayton PT, Hyland K, Brand M, Leonard JV.
Eur J Pediatr. 1986 Apr;145(1-2):46-50. doi: 10.1007/BF00441851.
PMID:3089795
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Al Busaidi M, Mohamed FE, Al-Ajmi E, Al Hashmi N, Al-Thihli K, Al Futaisi A, Al Mamari W, Al-Murshedi F, Al-Jasmi F.
Orphanet J Rare Dis. 2023 Nov 3;18(1):344. doi: 10.1186/s13023-023-02946-5.
PMID:37924129
Two cases of phosphoenolpyruvate carboxykinase deficiency.
Hommes FA, Bendien K, Elema JD, Bremer HJ, Lombeck I.
Acta Paediatr Scand. 1976 Mar;65(2):233-40. doi: 10.1111/j.1651-2227.1976.tb16543.x.
PMID:176867
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD.
Mol Genet Metab. 2016 May;118(1):21-7. doi: 10.1016/j.ymgme.2016.03.001. Epub 2016 Mar 4.
PMID:26971250
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM.
Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6.
PMID:28216384
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