Results 91 to 100 of about 18,288 (188)

Oxidative stress and adrenocortical insufficiency [PDF]

, 2016
This work has been supported by the Wellcome Trust (Clinical Research Training Fellowship grant number WT095984AIA to R P) and the Medical Research Council UK (project grant number MR/K020455/1 to L A ...
Allgrove, Azhar, Basel-Vanagaite, Behne, Chanoine, Clark, Cox, Dixit, E Meimaridou, Ferrari, Forss-Petter, Galea, Galino, GONCHAROVA, Goncharova, Grinberg, Gruber, H L Storr, Hamre, Handschug, Hanukoglu, Hanukoglu, Hayashi, Hoftberger, Hornig, Hornsby, Houlden, Huebner, Huebner, Hughes, J C Kowalczyk, Kemp, Khan, Kil, Kim, Kind, Kiriyama, Krumbholz, Kulkarni, L A Metherell, Lu, Meimaridou, Metherell, Milenkovic, Miller, Neilson, Neilson, Palmieri, Powers, Pujol, R Prasad, Rapoport, Ray, Rossmeisl, Sena, Storr, Svirbely, Toye, Troffer-Charlier, Vallet, Watabe, Wichers-Rother, Woo, Zhang, Zhao, Ziegler   +65 more
core   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

The Application of Clinical Genetics, 2022
Alyssa M Volmrich,1 Lauren M Cuénant,1 Irman Forghani,2 Sharon L Hsieh,3 Lauren T Shapiro1 1Department of Physical Medicine & Rehabilitation, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Human Genetics, University of ...
Volmrich AM, Cuénant LM, Forghani I, Hsieh SL, Shapiro LT   +4 more
doaj  

Hematopoietic (stem) cells—The elixir of life?

FEBS Letters, Volume 600, Issue 4, Page 392-417, February 2026.
The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo, Jonah Anderson, Emilie Dinh Vedrenne, Noël Yeh Martín, Jette Lengefeld   +4 more
wiley   +1 more source

A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease

Indian Journal of Psychiatry, 2016
Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. A 30-year-old male, previously diagnosed with Addison's disease, on steroid supplementation for 18 years, presented to us with manic symptoms for 4 years.
K. S. Jyothi, Cyriac George, K. S. Shaji
doaj   +1 more source

Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance [PDF]

, 2006
In contrast to peroxisomes in normal cells, remnant peroxisomes in cultured skin fibroblasts from a subset of the clinically severe peroxisomal disorders that includes the biogenesis disorder Zellweger syndrome and the single-enzyme defect D-bifunctional
Bjorkman, Jonas, Crane, Denis I., Nguyen, Tam, Paton, Barbara Cleland   +3 more
core   +2 more sources

Cost–Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (ALD) is an inherited metabolic disorder that can cause adrenal insufficiency and cerebral ALD (cALD) in childhood. Early detection prevents adverse health outcomes and can be achieved by newborn screening (NBS) followed by ...
Rosalie C. Martens, Hana M. Broulikova, Marc Engelen, Stephan Kemp, Anita Boelen, Robert de Jonge, Judith E. Bosmans, Annemieke C. Heijboer   +7 more
doaj   +1 more source

A Review of Genetic Transfer Therapy Trials from a Regulatory Perspective for the Scientific Understanding [PDF]

, 2013
The present work reviews the safety and efficacy concerns of the Recombinant DNA Advisory Committee (RAC) regarding Gene Transfer Therapy (GTT) clinical trials.
Olguin, Arturo
core   +2 more sources

Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism[S]

Journal of Lipid Research, 2010
In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, α-oxidation and β-oxidation; the latter pathway can also handle ω-oxidized compounds.
Paul P. Van Veldhoven
doaj   +1 more source

Peroxisomes and disease - an overview. [PDF]

, 2016
Peroxisomes are indispensable for human health and development. They represent ubiquitous subcellular organelles which compartmentalize enzymes responsible for several crucial metabolic processes such as β-oxidation of specific fatty acids, biosynthesis ...
Bonekamp, NA, Delille, HK, Schrader, M
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