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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
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
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
Generalized lipoatrophy syndromes.
Sorkina E, Chichkova V.
Presse Med. 2021 Nov;50(3):104075. doi: 10.1016/j.lpm.2021.104075. Epub 2021 Sep 22.
PMID:34562560
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
The genetic autopsy.
Scheimberg I.
Curr Opin Pediatr. 2013 Dec;25(6):659-65. doi: 10.1097/MOP.0b013e328365ae0d.
PMID:24240284
Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations.
Jaeken J.
J Mother Child. 2020 Nov 10;24(2):14-20. doi: 10.34763/jmotherandchild.20202402si.2005.000004.
PMID:33554500
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