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congenital genetic metabolic disease,congenital metabolic defect相关文献:
Glucose-6-phosphate dehydrogenase deficiency.
Cappellini MD, Fiorelli G.
Lancet. 2008 Jan 5;371(9606):64-74. doi: 10.1016/S0140-6736(08)60073-2.
PMID:18177777
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R.
Int J Mol Sci. 2023 May 11;24(10):8632. doi: 10.3390/ijms24108632.
PMID:37239976
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT.
Cell. 2024 Jul 11;187(14):3585-3601.e22. doi: 10.1016/j.cell.2024.04.041. Epub 2024 May 30.
PMID:38821050
Structural brain defects.
Whitehead MT, Fricke ST, Gropman AL.
Clin Perinatol. 2015 Jun;42(2):337-61, ix. doi: 10.1016/j.clp.2015.02.007. Epub 2015 Apr 4.
PMID:26042908
Suppression of Myocardial Hypoxia-Inducible Factor-1alpha Compromises Metabolic Adaptation and Impairs Cardiac Function in Patients With Cyanotic Congenital Heart Disease During Puberty.
Liu Y, Luo Q, Su Z, Xing J, Wu J, Xiang L, Huang Y, Pan H, Wu X, Zhang X, Li J, Yan F, Zhang H.
Circulation. 2021 Jun 8;143(23):2254-2272. doi: 10.1161/CIRCULATIONAHA.120.051937. Epub 2021 Mar 5.
PMID:33663226
The genetic autopsy.
Scheimberg I.
Curr Opin Pediatr. 2013 Dec;25(6):659-65. doi: 10.1097/MOP.0b013e328365ae0d.
PMID:24240284
Hyperinsulinaemic hypoglycaemia.
Arya VB, Mohammed Z, Blankenstein O, De Lonlay P, Hussain K.
Horm Metab Res. 2014 Mar;46(3):157-70. doi: 10.1055/s-0034-1367063. Epub 2014 Feb 20.
PMID:24557504
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
Ganetzky RD, Markhard AL, Yee I, Clever S, Cahill A, Shah H, Grabarek Z, To TL, Mootha VK.
N Engl J Med. 2022 Oct 13;387(15):1395-1403. doi: 10.1056/NEJMoa2202949.
PMID:36239646
Pulmonary pathology.
deMello DE.
Semin Neonatol. 2004 Aug;9(4):311-29. doi: 10.1016/j.siny.2003.12.001.
PMID:15251148
Heme biosynthesis and the porphyrias.
Phillips JD.
Mol Genet Metab. 2019 Nov;128(3):164-177. doi: 10.1016/j.ymgme.2019.04.008. Epub 2019 Apr 22.
PMID:31326287
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