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progressive encephalopathy of childhood相关文献:
Pediatric Ischemic Stroke.
Fox C.
Continuum (Minneap Minn). 2023 Apr 1;29(2):566-583. doi: 10.1212/CON.0000000000001239.
PMID:37039410
Neonatal encephalopathy and hypoxic-ischemic encephalopathy.
Gunn AJ, Thoresen M.
Handb Clin Neurol. 2019;162:217-237. doi: 10.1016/B978-0-444-64029-1.00010-2.
PMID:31324312
Neonatal hypoglycemia: lack of evidence for a safe management.
Roeper M, Hoermann H, Kummer S, Meissner T.
Front Endocrinol (Lausanne). 2023 Jun 8;14:1179102. doi: 10.3389/fendo.2023.1179102. eCollection 2023.
PMID:37361517
[Fabry disease: A review].
Michaud M, Mauhin W, Belmatoug N, Bedreddine N, Garnotel R, Catros F, Lidove O, Gaches F.
Rev Med Interne. 2021 Feb;42(2):110-119. doi: 10.1016/j.revmed.2020.08.019. Epub 2020 Nov 7.
PMID:33172708
X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT.
Curr Neurol Neurosci Rep. 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0.
PMID:25115486
Effects of stress on the development and progression of cardiovascular disease.
Kivimäki M, Steptoe A.
Nat Rev Cardiol. 2018 Apr;15(4):215-229. doi: 10.1038/nrcardio.2017.189. Epub 2017 Dec 7.
PMID:29213140
Evaluation, Treatment, and Outcomes of Viral and Autoimmune Encephalitis in Children.
Vova JA, Howarth RA.
Pediatr Clin North Am. 2023 Jun;70(3):429-444. doi: 10.1016/j.pcl.2023.01.007. Epub 2023 Mar 21.
PMID:37121635
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study; Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network; Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators; Masuelli L, Conti V, Novarino G, Fassio A.
Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145.
PMID:35675510
When and How to Diagnose Fabry Disease in Clinical Pratice.
Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F.
Am J Med Sci. 2020 Dec;360(6):641-649. doi: 10.1016/j.amjms.2020.07.011. Epub 2020 Jul 10.
PMID:32723516
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators.
Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052.
PMID:33880529
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