Results 21 to 30 of about 1,141,621 (185)

Zellweger syndrome

Sri Lanka Journal of Neurology, 2015
No abstract ...
M. N. P. Perera, P. D. Rathnayaka, E. A. Jasinge, S. K. Arulmoli   +3 more
openaire   +2 more sources

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

Christoph Zellweger

, 2011
This book offers an essential reference for anyone interested in contemporary European jewellery design. Through guided conversations with the major designers of today, Roberta Bernabei reveals the creative, conceptual and technical working practices ...
Zellweger, Christoph
core   +6 more sources

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

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

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses. [PDF]

Anal Cell Pathol (Amst)
Naegleria fowleri, the brain‐eating ameba, causes primary amebic meningoencephalitis (PAM), a fatal infectious disease that affects the central nervous system (CNS). We aimed to evaluate the functions and potential drugs targeting PAM using text mining and bioinformatics analyses.
Sohn EJ, Jo H, Park KT.
europepmc   +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

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

Journal of Medical Case Reports, 2017
Background The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders.
Maria Blomqvist, Karin Ahlberg, Julia Lindgren, Sacha Ferdinandusse, Jorge Asin-Cayuela   +4 more
doaj   +1 more source

Dysmorphic features in a newborn with neurological, liver and kidney involvement by defective peroxisomal biogenesis. Case report

Case Reports, 2020
Introduction: Inborn errors of metabolism have significant morbidity and mortality rates in the neonatal period. One of these disorders is defective peroxisomal biogenesis, which causes complex and severe clinical pictures because peroxisomes are present
Yolanda Cifuentes, Clara Arteaga
doaj   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous <i>SPINK1</i> pathogenic variant in two siblings: A case report. [PDF]

JPGN Rep
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
Chalon F, Lhomme A, Léonard M, Zambelli L, Alkan S, Fasquelle C, Lumaka A, Debray G, Bours V, Frère J, Bequet E.   +10 more
europepmc   +2 more sources