Results 111 to 120 of about 8,302 (215)

PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome. [PDF]

Transl Pediatr, 2021
He Y, Lin SB, Li WX, Yang L, Zhang R, Chen C, Yuan L.   +6 more
europepmc   +1 more source

Zellweger syndrome [PDF]

, 2020
openaire   +3 more sources

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

Developmental changes in the L-arginine/nitric oxide pathway from infancy to adulthood: plasma asymmetric dimethylarginine levels decrease with age [PDF]

, 2017
Background: The L-arginine/nitric oxide (NO) pathway has multiple physiological functions including vasodilation, inhibition of platelet aggregation and neurotransmission.
Das, Anibh M., Kanzelmeyer, Nele, Kemper, Markus J., Lücke, Thomas, Tsikas, Dimitrios   +4 more
core  

Biomarkers and acute coronary syndromes: an update [PDF]

, 2017
Biomarkers complement clinical assessment and the 12-lead ECG in the diagnosis, risk stratification, triage, and management of patients with suspected acute coronary syndrome (ACS). While there is broad consensus that cardiac troponin (cTn) I or T is the
Mueller, Christian
core  

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

Neurodevelopmental Disorders Associated with Chromosome 15 [PDF]

, 2011
Chromosome 15 is a focus of increasing interest to both psychiatry and neurology. Several neurodevelopmental disorders are genetically associated with this autosome, including Prader-Willi syndrome, Angelman syndrome, Dyslexia, Autism, Hyperlexia, Ring ...
Sieg, M.D., Karl G.
core   +1 more source

Zellweger syndrome (cerebro-hepato-renal syndrome)

Sri Lanka Journal of Child Health, 2009
Sri Lanka Journal of Child Health, 2001; 30: 15-16(Key words: Zellweger syndrome, cerebro-hepato-renal syndrome)DOI : 10.4038/sljch.v30i1 ...
openaire   +2 more sources