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Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency
Nature
Metabolic dysfunction-associated steatotic liver disease (MASLD) is considered multifactorial with a number of predisposing gene polymorphisms known.
hace 4 meses
Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background
Frontiers
Severe aplastic anemia (SAA) is a life-threatening bone marrow failure syndrome whose development can be triggered by environmental, autoimmune,...
hace 6 meses
Fig. 1. The tooth and its supporting tissues. The biology of dental...
ResearchGate
Download scientific diagram | The tooth and its supporting tissues. The biology of dental tissues implies that tooth abnormalities might occur in various...
hace 26 meses
Knock-out of dipeptidase CN2 in human proximal tubular cells disrupts dipeptide and amino acid homeostasis and para- and transcellular solute transport
Wiley Online Library
Aim Although of potential biomedical relevance, dipeptide metabolism has hardly been studied. We found the dipeptidase carnosinase-2 (CN2) to be abundant in...
hace 10 meses
Figure 3 Oral radiographic characteristics of vascular EhlerseDanlos...
ResearchGate
Download scientific diagram | Oral radiographic characteristics of vascular EhlerseDanlos syndrome. An orthopantogram of a 30-year-old patient shows...
hace 82 meses
Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes
Frontiers
IntroductionRiboflavin transporter deficiency type 2 (RTD2) is a rare neurodegenerative autosomal recessive disease caused by mutations in the SLC52A2 gene...
hace 6 meses
Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria
Frontiers
PurposeIn this study, we retrospectively reviewed the use of flow cytometry (FCM) in the diagnosis of inborn errors of immunity (IEIs) at a single center in...
hace 6 meses
Potential applicability of virtual reality in implant dentistry: a narrative review
Frontiers
Dental implants have a high success rate but face challenges such as improper positioning, implant fracture, and tissue damage, often due to the lack of...
hace 2 meses
Ringvorlesung
Med Uni Innsbruck
Oktober 2024. Gesundheit von Menschen mit Behinderung aus Sicht der Diversitäts- und Geschlechtersensiblen Medizin. Univ.-Prof.<sup>in</sup> Dr.<sup>in</sup> Sabine Ludwig, MSc,...
hace 5 meses
Neues Service: ExpertInnenverzeichnis für JournalistInnen
Medizinische Universität Innsbruck
Von A wie Abwasseranalyse bis Z wie Zyklusstörungen und von A wie Timon Adolph bis Z wie Johannes Zschocke: Sie recherchieren zu einem bestimmten Thema und...
hace 1 semana