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congenital genetic metabolic disease,congenital metabolic defect相关文献:
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
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK.
Tex Heart Inst J. 2013;40(4):385-94.
PMID:24082366
An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.
Casertano A, Rossi A, Fecarotta S, Rosanio FM, Moracas C, Di Candia F, Parenti G, Franzese A, Mozzillo E.
Front Endocrinol (Lausanne). 2021 Aug 2;12:684011. doi: 10.3389/fendo.2021.684011. eCollection 2021.
PMID:34408725
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
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E.
J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15.
PMID:32681750
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
The genetic autopsy.
Scheimberg I.
Curr Opin Pediatr. 2013 Dec;25(6):659-65. doi: 10.1097/MOP.0b013e328365ae0d.
PMID:24240284
2022 Overview of Metabolic Epilepsies.
Tumiene B, Ferreira CR, van Karnebeek CDM.
Genes (Basel). 2022 Mar 12;13(3):508. doi: 10.3390/genes13030508.
PMID:35328062
Inherited conditions resulting in nephrolithiasis.
Hoppe B, Martin-Higueras C.
Curr Opin Pediatr. 2020 Apr;32(2):273-283. doi: 10.1097/MOP.0000000000000848.
PMID:31789978
Platelets and Defective N-Glycosylation.
Mammadova-Bach E, Jaeken J, Gudermann T, Braun A.
Int J Mol Sci. 2020 Aug 6;21(16):5630. doi: 10.3390/ijms21165630.
PMID:32781578
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