Results 101 to 110 of about 18,427 (209)

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Diagnostic issues and clinical spectrum of childhood degenerative brain diseases [PDF]

, 2014
To find out the spectrum of clinical presentation and typesof neurodegenerative disorders of childhoodin tertiary care child neurology centre of Pakistan. To find out the role of brain imaging in the diagnosis of degenerative brain disorders in children.
Ameer Khan, Ashfa, Arshad Khawaja, Muhammad, Rahman, Zia ur, Sultan, Tipu, Waheed Rathore, Ahsan   +4 more
core   +1 more source

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

Identification of the Occipito-Pontine Tract Using Diffusion-Tensor Fiber Tracking in Adult-Onset Adrenoleukodystrophy with Topographic Disorientation

Case Reports in Neurology, 2011
X-linked adrenoleukodystrophy is a severe and progressive neurodegenerative disease caused by the peroxisomal transporter ATP-binding cassette, subfamily D, member 1 gene mutations.
Yuji Uchida, En Kimura, Teruyuki Hirano, Shinsuke Nishi, Yasushi Maeda, Satoshi Yamashita, Keiko Ueno-Shuto, Naofumi Tokutomi, Mika Kitajima, Toshinori Hirai, Makoto Uchino   +10 more
doaj   +1 more source

Simultaneous submicrometric 3D imaging of the micro-vascular network and the neuronal system in a mouse spinal cord [PDF]

, 2014
Defaults in vascular (VN) and neuronal networks of spinal cord are responsible for serious neurodegenerative pathologies. Because of inadequate investigation tools, the lacking knowledge of the complete fine structure of VN and neuronal systems is a ...
Battaglia, Giuseppe, Bravin, Alberto, Brun, Francesco, Bucci, Domenico, Bukreeva, Inna, Campi, Gaetano, Cedola, Alessia, Fratini, Michela, Giove, Federico, Mastrogiacomo, Maddalena, Modregger, Peter, Requardt, Herwig, Spadon, Raffaele, Tromba, Giuliana   +13 more
core   +4 more sources

Efficient derivation of microglia-like cells from human pluripotent stem cells [PDF]

, 2016
Microglia, the only lifelong resident immune cells of the central nervous system (CNS), are highly specialized macrophages that have been recognized to have a crucial role in neurodegenerative diseases such as Alzheimer's, Parkinson's and ...
Aubourg, Patrick, Bakiasi, Grisilda, Corcoran, Sean R., Jaenisch, Rudolf, Li, Yun, Mitalipova, Maisam, Muffat, Julien, Omer, Attya, Ransohoff, Richard M, Tsai, Li-Huei, Yuan, Bingbing   +10 more
core   +2 more sources

Integrase-deficient lentiviral vectors mediate efficient gene transfer to human vascular smooth muscle cells with minimal genotoxic risk [PDF]

, 2012
We have previously shown that injury-induced neointima formation was rescued by adenoviral-Nogo-B gene delivery. Integrase-competent lentiviral vectors (ICLV) are efficient at gene delivery to vascular cells but present a risk of insertional mutagenesis.
Adrian J. Thrasher, Ali Nowrouzi, Andrew H. Baker, Christian Delles, George S.J., Helen E. Chick, Manfred Schmidt, Nicole M. Kane, Raffaele Fronza, Raul Alba, Robert A. McDonald, William C. Sessa   +11 more
core   +1 more source

Fulminant Adrenal Crisis as the Initial Healthcare System Presentation of Adolescent Cerebral X‐Linked Adrenoleukodystrophy

CNS Neuroscience &Therapeutics, Volume 32, Issue 4, April 2026.
Junqiu Zhou, Wei Meng, Wei Zhao, Chenguang Shen   +3 more
wiley   +1 more source

The peroxisome: still a mysterious organelle. [PDF]

, 2016
More than half a century of research on peroxisomes has revealed unique features of this ubiquitous subcellular organelle, which have often been in disagreement with existing dogmas in cell biology.
Fahimi, HD, Schrader, M
core   +1 more source

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