Publications by authors named "I Martinez-Duncker"
Candidemia is an opportunistic mycosis with high morbidity and mortality rates. Even though is the main causative agent, other species, such as , are relevant etiological agents of candidiasis and candidemia. Compared with , there is currently limited information about biological aspects, including those related to the cell wall and the interaction with the host.
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- The report examines clinical, genetic, and biochemical characteristics of individuals with a confirmed congenital disorder of glycosylation (CDG) participating in the FCDGC Natural History cohort after five years of study.
- A total of 333 subjects were enrolled, with 280 having available genetic data; this included a nearly even split between males and females, with ages ranging from infancy to 71 years.
- The study found developmental delays to be the most common symptom leading to diagnosis, occurring in 77% of participants, with an average delay of 2.7 years from symptom onset to diagnosis, and nearly all individuals displaying some developmental differences at the time of enrollment.
is one of the etiological agents of sporotrichosis, a cutaneous and subcutaneous infection distributed worldwide. Like other medically relevant fungi, its cell wall is a molecular scaffold to display virulence factors, such as protective pigments, hydrolytic enzymes, and adhesins. Cell wall proteins with adhesive properties have been previously reported, but only a handful of them have been identified and characterized.
View Article and Find Full Text PDFThis report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in , which encodes an α1,3-mannosyltransferase (EC 2.4.1.
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