Results 21 to 30 of about 8,302 (215)

Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals.

Journal of Lipid Research, 1988
The absence of peroxisomes in patients with the cerebrohepatorenal syndrome of Zellweger leads to several biochemical abnormalities, including deficient synthesis of plasmalogens as well as accumulation of very long-chain fatty acids and intermediates in
I Björkhem, L Sisfontes, B Boström, B F Kase, R Blomstrand   +4 more
doaj   +1 more source

World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective

Children, 2023
The goal of this manuscript is to present and summarize several rare pediatric syndromes (Zellweger syndrome, Kartagener syndrome, Prader-Willi syndrome, Schinzel-Giedion syndrome, Fanconi anemia, Joubert-Boltshauser syndrome, Poretti-Boltshauser ...
Laura M. Huisman, Thierry A. G. M. Huisman   +1 more
doaj   +1 more source

Different types of peroxisomes in human duodenal epithelium [PDF]

, 1991
Peroxisomes are ubiquitous organelles containing enzyme sequences for beta-oxidation of fatty acids, synthesis of bile acids, and ether phospholipids.
Roels, Frank, Espeel, Marc, Pauwels, M, De Craemer, Dirk, Egberts, H, Van der Spek, P   +5 more
core   +1 more source

Craniofacial variation and growth in the Prader-Labhart-Willi syndrome [PDF]

, 1987
A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research.
Butler, Merlin G., Meaney, F. John
core   +1 more source

The making of a mammalian peroxisome, version 2.0: mitochondria get into the mix [PDF]

, 2017
This is the author accepted manuscript. The final version is available from Nature Publishing Group via the DOI in this record.A recent report from the laboratory of Heidi McBride (McGill University) presents a role for mitochondria in the de novo ...
A Bagattin, A Sood, A Sugiura, A Sugiura, A van der Zand, AC Muntau, AM Motley, AM Motley, AM Pickrell, B Knoblach, C Williams, D Hoepfner, D Matheoud, E Area-Gomez, E Area-Gomez, E Braschi, EH Hettema, FC Klouwer, G Agrawal, GL McLelland, GL McLelland, HK Delille, HW Platta, J Berger, J Koch, JA Kiel, JE Vance, JE Vance, JE Vance, JJ Smith, JL Costello, K Knoops, KA Sacksteder, Luca Pellegrini, M Giacomello, M Honsho, M Neuspiel, M Schrader, M Schrader, M Schrader, Michael Schrader, MS Herrera-Cruz, NA Bonekamp, NE Braverman, PB Lazarow, PK Kim, R Erdmann, R Hua, R Hua, R Rucktaschel, R Stoica, RJ Wanders, S Caielli, S Goldfischer, S Vyas, S Yamashita, SJ Gould, SJ Huybrechts, T Matsuzaki, V Soubannier, W Yuan   +60 more
core   +1 more source

Cerebro-Hepato-Renal (Zellweger) Syndrome

Pediatric Neurology Briefs, 1987
Selective neuronal lipidosis and neuroaxonal dystrophy of the dorsal nucleus of Clarke and lateral cuneate nucleus were the neuropathological findings in 3 males with Zellweger syndrome examined at the Medical Unit S Carolina, Charleston, SC, the John F.
J Gordon Millichap
doaj   +1 more source

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.

Journal of Lipid Research, 1988
In recent years a growing number of inherited diseases have been recognized to originate from an impairment in one or more peroxisomal functions. Since it is well established that the first two steps in the biosynthesis of plasmalogens proceed in ...
G Schrakamp, C G Schalkwijk, R B Schutgens, R J Wanders, J M Tager, H van den Bosch   +5 more
doaj   +1 more source

Brain Peroxisomes [PDF]

, 2013
Peroxisomes are essential organelles in higher eukaryotes as they play a major role in numerous metabolic pathways and redox homeostasis. Some peroxisomal abnormalities, which are often not compatible with life or normal development, were identified in ...
Geillon, Flore, Gondcaille, Catherine, Lizard, Gérard, Nury, T., Savary, Stéphane, Trompier, Doriane, Vejux, A., Zarrouk, A.   +7 more
core   +2 more sources

Epoxide hydrolase in human and rat peroxisomes: implication for disorders of peroxisomal biogenesis.

Journal of Lipid Research, 1996
To understand the basis of excretion of excessive amounts of epoxydicarboxylic fatty acids (EDFA) in urine of patients with disorders of peroxisomal biogenesis (Pitt, J. J., and A. Poulos. 1993. Clin. Chim. Acta.
K Pahan, B T Smith, I Singh
doaj   +1 more source

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]

, 2017
: Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller, Artuch, Brismar, Calabresi, Carre, Duarte, El-Bassyouni, Fenton, Hayashi, Krahenbuhl, Lindblad, Manoli, Manoli, Martin, McMurry, Moser, Reza Rezvani, Royes, Schrakamp, Scriver, Taneka, Trinh, Van Bakel, Velema, Wilke, Williams   +25 more
core   +1 more source