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.
Pediatric Ischemic Stroke.
Fox C.
Continuum (Minneap Minn). 2023 Apr 1;29(2):566-583. doi: 10.1212/CON.0000000000001239.
[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.
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.
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.
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.
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.
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.
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.
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C.
Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9.
