Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI.

Autor: Buermans NJML; Department of neuropsychology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van den Bosch SJG; Department of Medical Psychology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, PO Box 22660, 1105, AZ, Amsterdam, The Netherlands., Huffnagel IC; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Steenweg ME; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Engelen M; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Oostrom KJ; Department of neuropsychology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Geurtsen GJ; Department of Medical Psychology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, PO Box 22660, 1105, AZ, Amsterdam, The Netherlands. g.j.geurtsen@amsterdamumc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Sep 14; Vol. 14 (1), pp. 217. Date of Electronic Publication: 2019 Sep 14.

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.

Autor: Pierpont, Elizabeth I., Isaia, Ashley R., McCoy, Erin, Brown, Sarah J., Gupta, Ashish O., Eisengart, Julie B.

Publikováno v: Journal of Inherited Metabolic Disease; Mar2023, Vol. 46 Issue 2, p174-193, 20p

The clinical spectrum of X-linked adrenoleukodystrophy: from Addison's-only in men to middle-age neurologic manifestations in women.

Autor: Fadiga L; Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal. lmsfadiga@gmail.com., Melo M; Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Saraiva J; Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Paiva I; Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.

Publikováno v: Hormones (Athens, Greece) [Hormones (Athens)] 2022 Mar; Vol. 21 (1), pp. 33-40. Date of Electronic Publication: 2021 Oct 15.