Results 91 to 100 of about 1,141,621 (185)

Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency. [PDF]

Front Pediatr, 2022
Fazi C, Lodi L, Magi L, Canessa C, Giovannini M, Pelosi C, Pochiero F, Procopio E, Donati MA, Azzari C, Ricci S.   +10 more
europepmc   +1 more source

Zellweger Syndrome [PDF]

, 2020
openaire   +3 more sources

Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome

Acta Medica Iranica, 2015
Zellweger syndrome (ZS) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal.
Mehri Najafi Sani, Mitra Ahmadi, Pejman Roohani, Nima Rezaei   +3 more
doaj  

A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review. [PDF]

Transl Pediatr, 2021
Lu P, Ma L, Sun J, Gong X, Cai C.
europepmc   +1 more source

Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation

Diagnostics
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an ...
Nicoletta Villa, Serena Redaelli, Stefania Farina, Elena Sala, Francesca Crosti, Sabrina Cozzolino, Maria Verderio, Leda Dalprà, Gaia Roversi, Angela Bentivegna, Giovanni Cazzaniga, Marialuisa Lavitrano, Donatella Conconi   +12 more
doaj   +1 more source

Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome

, 1985
The absence of peroxisomes in patients with the cerebro-hepato-renal (Zellweger) syndrome is accompanied by a number of biochemical abnormalities, including an accumulation of very long-chain fatty acids.
Schutgens, R. B., Hashimoto, T., Heymans, H. S., Tager, J. M., van der Beek, W. A., Wanders, R. J., van den Bosch, H., Schram, A. W.   +7 more
core   +1 more source

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

, 1987
Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia.
Scotto, J. M., Monnens, L., Schutgens, R. B., Ogier, H. A., Saudubray, J. M., Govaerts, L. C., Odièvre, M., Cornelis, A., Roels, F., Poll-The, B. T.   +9 more
core   +1 more source

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

, 1999
Peroxisome biogenesis disorders are a heterogeneous group of human neurodegenerative diseases caused by peroxisomal metabolic dysfunction. At the molecular level, these disorders arise from mutations in PEX genes that encode proteins required for the ...
Maxwell, Megan A., Carey, W. F., Crane, Denis I., Chin, SJ, Paton, BC, Carey, WF, Crane, DI, Paton, Barbara Cleland, Nelson, P. V., Chin, S. J., Maxwell, MA, Nelson, PV   +11 more
core   +1 more source

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants. [PDF]

J Appl Genet, 2020
Lipiński P, Stawiński P, Rydzanicz M, Wypchło M, Płoski R, Stradomska TJ, Jurkiewicz E, Ferdinandusse S, Wanders RJA, Vaz FM, Tylki-Szymańska A.   +10 more
europepmc   +1 more source

Zellweger syndrome

, 2010
Yuranga Weerakkody, Arlene Campos, Henry Knipe   +2 more
openaire   +2 more sources