Results 91 to 100 of about 8,302 (215)

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels [PDF]

, 2016
Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment.
Almeida, M., Carmona, C., Coutinho, M., Ferreira, R., Fortuna, A., Lacerda, L., Laranjeira, F., Martins, E., Miranda, V., Pacheco, S., Ribeiro, I., Rocha, J., Sá, M.   +12 more
core   +1 more source

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by ‘product replacement’. One of the disorders in the pathways
Peter T. Clayton, Rohit Hirachan, Elaine Murphy   +2 more
wiley   +1 more source

Localization of nervonic acid β-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy

Journal of Lipid Research, 1998
Studies with purified subcellular organelles from rat liver indicate that nervonic acid (C24:1) is β-oxidized preferentially in peroxisomes. Lack of effect by etomoxir, inhibitor of mitochondrial β-oxidation, on β-oxidation of lignoceric acid (C24:0), a ...
Rajat Sandhir, Mushfiquddin Khan, Amarjit Chahal, Inderjit Singh   +3 more
doaj   +1 more source

Sorting of chromosomes by magnetic separation [PDF]

, 1988
Chromosomes were isolated from Chinese hamster x human hybrid cell lines containing four and nine human chromosomes. Human genomic DNA was biotinylated by nick translation and used to label the human chromosomes by in situ hybridization in suspension ...
A Oberteufer, B Schw�ger, B Trask, C Cremer, Christoph Cremer, CS Owen, D Durnam, D Peters, D Pinkel, D Pinkel, Eduardo Diaz, Ernst W. Steegmayer, G Dudin, Gertrud Dudin, Haide Schnitzer, JC Fuscoe, JG Collard, K Nustad, Kathryn E. Howell, KE Howell, L Manuelidis, L-C Yu, M Schardin, Peter Vogt, PW Rigby, RS Molday, RV Lebo, T Lea, T Lea, Thomas Cremer, U Blochmann   +30 more
core   +1 more source

Male gender predisposes to development of endotoxic shock in the rat [PDF]

, 2000
Objective: After intravenous (i.v.) injection of lipopolysaccharide (LPS) macrophages release nitric oxide (NO) due to the expression of the inducible NO synthase (iNOS).
Baylis, C., Hamar, Péter, Harvey, J., Heemann, Uwe, Kriston, Tünde, Losonczy, György, Müller, Veronika, Szabó, Attila József   +7 more
core   +1 more source

Maternal Circulatory NAD Precursor Levels and the Yolk Sac Determine NAD Deficiency‐Driven Congenital Malformation Risk

The FASEB Journal, Volume 39, Issue 14, 31 July 2025.
Maternal circulatory L‐tryptophan (TRP) and nicotinamide (NAM) levels are proportional to dietary TRP intake. Yolk sacs, but not embryos, perform NAD de novo synthesis. This study explores the exchange of NAD precursors between mother and conceptus, and NAD generation in conceptal tissues via the NAD de novo synthesis (blue) or salvage (red) pathways ...
Kayleigh Bozon, Hartmut Cuny, Delicia Z. Sheng, Alena Sipka, Antonia W. Shand, Natasha Nassar, Sally L. Dunwoodie   +6 more
wiley   +1 more source

Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): activity measurements in liver and fibroblasts using a newly developed method

Journal of Lipid Research, 2000
: Sterol carrier protein X (SCPx) plays a crucial role in the peroxisomal oxidation of branched-chain fatty acids. To investigate whether patients with an unresolved defect in peroxisomal β-oxidation are deficient for SCPx, we developed a novel and ...
Sacha Ferdinandusse, Simone Denis, Emanuel van Berkel, Georges Dacremont, Ronald J.A. Wanders   +4 more
doaj   +1 more source

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32 [PDF]

, 2010
Background: A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent.
Kathryn Hattersley, Kate J Laurie, Jan E Liebelt, Jozef Gecz, Shane R Durkin, Jamie E Craig, Kathryn P Burdon   +6 more
core   +3 more sources

Quality of reporting of randomized controlled trials in polycystic ovary syndrome [PDF]

, 2009
Background: Inadequate reporting of randomized controlled trials (RCTs) is associated with biased estimates of treatment effects. The reporting quality of RCTs involving patients with polycystic ovary syndrome (PCOS) is unknown. The purpose of this study
Anna Partsinevelou, Elias Zintzaras, B Djulbegovic, D Moher, DG Altman, DC Ziogas, AA Papathanasiou, M Pfeifer, I Olkin, P Juni, KF Schulz, L Wood, KF Schulz, A Liberati, D Moher, D Moher, C Junker, A Plint, D Moher, DG Altman, D Rennie, D McNamee, D Rennie, E Diamanti-Kandarakis, The Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group, G Colditz, K Huwiler-Müntener, JR Landis, M Egger, M Egger, PJ Devereaux, HP Soares, SA Olivo, R Lai, S Dias, C Begg, E Mills   +36 more
core   +2 more sources

Human African trypanosomiasis [PDF]

, 2009
Human African trypanosomiasis (sleeping sickness) occurs in sub-Saharan Africa. It is caused by the protozoan parasite Trypanosoma brucei, transmitted by tsetse flies.
Abel, Agranoff, Ancelle, Ayed, Balasegaram, Balasegaram, Barrett, Barrett, Barrett, Bayer, Bedat-Millet, Bisoffi, Bisser, Bisser, Blum, Blum, Blum, Blum, Blum, Blum, Bronner, Brun, Buguet, Burri, Burri, Chappuis, Chappuis, Chappuis, Chappuis, Chappuis, Chappuis, Checchi, Checchi, Christian Burri, Courtioux, De Raadt, Deborggraeve, Deborggraeve, Dorlo, Doua, Duggan, Dukes, Ekwanzala, Enyaru, Ezzedine, Fevre, Fevre, Francois Chappuis, Greenwood, Gustafsson, Hutchinson, Iborra, Inojosa, Iten, Jamonneau, Jamonneau, Jamonneau, Jamonneau, Jamonneau, Jansson, Jelinek, Johannes Blum, Jordan, Joshi, Kabasa, Kennedy, Kennedy, Koten, Lejon, Lejon, Lejon, Lejon, Lejon, Lejon, Lejon, Lejon, Louis, Lumsden, Lundkvist, Lutumba, Lutumba, Lutumba, Lutumba, MacLean, Macleod, Magnus, Marcello, Marcello, Masocha, Maudlin, Mendonca, Moore, Moore, Moore, Na-Bangchang, Njiokou, Njiru, Noireau, Noireau, Odiit, Odiit, Oscherwitz, Papadopoulos, Paquet, Penchenier, Pepin, Picozzi, Priotto, Priotto, Priotto, Reincke, Reto Brun, Ripamonti, Robays, Robays, Ruiz, Schmid, Shiflett, Simarro, Simarro, Simarro, Simo, Smith, Spencer, Stanghellini, Stevens, Steverding, Steverding, Stijlemans, Stuart, Taylor, Torr, Truc, Truc, Truc, Truc, Van Meirvenne, Van Nieuwenhove, Vanhamme, Vanhollebeke, Vreysen, Welburn, Welburn, Woo   +143 more
core   +2 more sources