Results 11 to 20 of about 2,160,111 (122)

Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder [PDF]

Case Reports in Gastroenterology, 2018
Zellweger spectrum disorders (ZSDs) are a subgroup of peroxisomal biogenesis disorders with a generalized defect in peroxisome function. Liver disease in ZSDs has been associated with the lack of peroxisomal β-oxidation of C27-bile acid intermediates to ...
James E. Heubi, Warren P. Bishop
doaj   +2 more sources

Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder [PDF]

JIMD Reports
We report the case of an 11‐year‐old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation.
Riya Mary Tharakan, Sanjay Rajwal, Bernd C. Schwahn   +2 more
doaj   +2 more sources

Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios[S] [PDF]

Journal of Lipid Research, 2016
Peroxisomes are subcellular organelles involved in various metabolic processes, including fatty acid and phospholipid homeostasis. The Zellweger spectrum disorders (ZSDs) represent a group of diseases caused by a defect in the biogenesis of peroxisomes ...
Katharina Herzog, Mia L. Pras-Raves, Martin A.T. Vervaart, Angela C.M. Luyf, Antoine H.C. van Kampen, Ronald J.A. Wanders, Hans R. Waterham, Frédéric M. Vaz   +7 more
doaj   +2 more sources

Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder [PDF]

Journal of Lipid Research
Zellweger Spectrum Disorder (ZSD) is caused by defects in PEX genes, whose proteins are required for peroxisome assembly and function. Peroxisome dysfunction in ZSD causes multisystem effects, with progressive retinal degeneration (RD) among the most ...
Samy Omri, Catherine Argyriou, Rachel S. Pryce, Erminia Di Pietro, Pierre Chaurand, Nancy Braverman   +5 more
doaj   +2 more sources

Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review [PDF]

BMC Pediatrics
Background Loss-of-function mutations in PEX3 have been associated with Zellweger syndrome (ZS), a severe form of peroxisome biogenesis disorder (PBD) characterized by significant global developmental delay, muscle weakness with bilateral ptosis ...
Jinfeng Su, Yingbo Tao, Lian Zhang, Jun Luo   +3 more
doaj   +2 more sources

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report [PDF]

BMC Pediatrics
Introduction Peroxisome biogenesis disorders (PBDs) are rare autosomal recessive neurodegenerative diseases caused by variants in Peroxin (PEX) genes, leading to defective peroxisome assembly and multisystem dysfunction.
Abdelrahim A. Sadek, Mohammed A. Aladawy, Khaled Hassan, Tarek M. M. Mansour, Mohamed Naser, Mohamed M. Elmoursy, Sohieb Hedewy, Ahmed Hagag, Kawashty Ragab Mohamed, Elsayed Abdelkreem   +9 more
doaj   +2 more sources

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

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome [PDF]

Molecular Genetics and Metabolism Reports, 2020
Eva M.M. Hoytema van Konijnenburg, Ilse K. Luirink, Sebastian E.E. Schagen, Marc Engelen, Kevin Berendse, Bwee Tien Poll-The, Malika Chegary   +6 more
doaj   +2 more sources

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata [PDF]

Biomolecules
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a peroxisomal disorder characterized by skeletal shortening, intellectual disability, seizures, cataracts, and reduced lifespans. RCDP1 is caused by biallelic loss-of-function variants in PEX7, which
Riya Sankhe, Meredith I. Williams, Wedad Fallatah, Laura Mackay, Mary Layne Brown, Pranjali Bhagwat, Sarah H. Elsea, Nancy Braverman, Michael F. Wangler   +8 more
doaj   +2 more sources

Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families [PDF]

Annals of Medicine
Background Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts.
Abdulfatah M. Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A. Hashmi, Azizah Alharbi, Sulman Basit   +5 more
doaj   +2 more sources