A perfectly imperfect engine: Utilizing the digital twin paradigm in pulmonary hypertension
Pulmonary Circulation, Volume 14, Issue 2, April 2024.Abstract Pulmonary hypertension (PH) is a severe medical condition with a number of treatment options, the majority of which are introduced without consideration of the underlying mechanisms driving it within an individual and thus a lack of tailored approach to treatment.
Melody Walker +6 more
wiley +1 more source
PREDIGA project: Preliminary results of the Spanish multicenter epidemiological and medical education project in acid sphingomyelinase deficiency disease (ASMD) and Gaucher disease (GD) [PDF]
, 2021 Calderón, Enrique +8 more
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Lysosomal storage diseases [PDF]
, 2017 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include
Ferreira, Carlos, Gahl, William
core +2 more sources
Analysis of genomics implementation in newborn screening for inherited metabolic disorders:an IRDiRC initiative [PDF]
Since its inception in 1963, newborn screening (NBS) has played a pivotal role in early detection and the establishment of appropriate care for infants and children afflicted with inherited metabolic disorders (IMDs).
Casari, Giorgio +6 more
core +1 more source
Value contribution of leniolisib in the Treatment of Activated PI3Kδ syndrome (APDS) in Spain using Multi-Criteria Decision Analysis (MCDA) [PDF]
Activated phosphoinositide 3-kinase delta syndrome; Decision-making; Ultra-rare diseaseSíndrome de fosfoinositida 3-quinasa delta activada; Toma de decisiones; Enfermedad ultra raraSíndrome de fosfoinosítida 3-quinasa delta activada; Presa de decisions ...
Abad, Reyes +5 more
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Chronic visceral acid sphingomyelinase deficiency:Paving the way to biomarker development [PDF]
Acid sphingomyelinase deficiency (ASMD) is rare lysosomal storage disease in which sphingomyelin accumulates due to deficiency of the enzyme acid sphingomyelinase.
Eskes, E.C.B.
core
DISFUNÇÃO DA AUTOFAGIA LISOSSOMAL E SEU PAPEL NO DESENVOLVIMENTO DA OBESIDADE [PDF]
Objetivo: Analisar a relação entre a disfunção da autofagia lisossomal e o desenvolvimento da obesidade. Métodos: Foi realizada uma pesquisa bibliográfica com artigos publicados entre 2015 e 2024, nas bases de dados Scielo, PubMed e LILACS/BVS.
Costa, Orbenia Vitor da +8 more
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Aspetos diagnósticos, terapêuticos e prognósticos das doenças colestáticas neonatais de causa genética [PDF]
, 2022 A colestase neonatal é uma das formas mais comuns de doença hepática na infância e afeta cerca de 1:2500 recém-nascidos. A etiologia divide-se entre intra- e extrahepáticas e dentro do primeiro grupo incluem-se as causas genéticas, que resultam em ...
Maia, Ana Catarina Ramos
core
Ceramide lowering rescues respiratory defects in a Drosophila model of acid sphingomyelinase deficiency [PDF]
Types A and B Niemann-Pick disease (NPD) are inherited multisystem lysosomal storage disorders due to mutations in the SMPD1 gene. Respiratory dysfunction is a key hallmark of NPD, yet the mechanism for this is underexplored.
Atilano, Magda L +4 more
core
Synthese von Inositderivaten für die Manipulation von Sphingolipid-metabolisierenden Enzymen [PDF]
Ceramid, ein zentrales Signalmolekül des Sphingolipidstoffwechsels, ist neben der de novo Synthese über die enzymatische Spaltung von Sphingomyelin und Glucosylceramid zugänglich.
Prause, Kevin
core +1 more source