Results 31 to 40 of about 113,820 (337)
Cystinuria: an inborn cause of urolithiasis [PDF]
Orphanet Journal of Rare Diseases, 2012 Orphanet journal of rare diseases 7, 19 (2012).
Eggermann, Thomas +2 more
openaire +5 more sources
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
core +5 more sources
Inborn errors of metabolite repair [PDF]
Journal of Inherited Metabolic Disease, 2019 AbstractIt is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side‐products. Recent work indicates that this statement is not entirely correct.
Veiga‐da‐Cunha, Maria +2 more
openaire +3 more sources
Frontiers in Oral HealthIntroductionThis study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.MethodsA cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a
Samuel Trezena +10 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2018 The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri +8 more
doaj +1 more source
Cyclic nucleotide signaling as a drug target in retinitis pigmentosa
FEBS Letters, EarlyView.Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää +2 more
wiley +1 more source
Scientific Reports, 2023 The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron +6 more
doaj +1 more source
Inborn errors in the metabolism of glutathione [PDF]
Orphanet Journal of Rare Diseases, 2007 Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA, proteins and ...
Ellinor Ristoff, Agne Larsson
openaire +4 more sources
FEBS Letters, EarlyView.Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu +17 more
wiley +1 more source
Interactivist approach to representation in epigenetic agents [PDF]
, 2003 Interactivism is a vast and rather ambitious philosophical and theoretical system originally developed by Mark Bickhard, which covers plethora of aspects related to mind and person.
Kulakov, Andrea, Stojanov, Georgi
core