Results 61 to 70 of about 2,734,131 (399)
Gene Therapy for Inborn Errors of Metabolism [PDF]
, 2013 Inborn errors of liver metabolism are frequent causes of morbidity and mortality especially in children. For several of these diseases, treatment approaches depend on manipulation of the affected metabolic pathway by diet, drugs, vitamin cofactors ...
Pastore, Nunzia
core +1 more source
Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism
Frontiers in Pediatrics, 2019 Hematopoietic stem cell transplantation (HSCT) has been established as an effective therapy for selected inborn errors of metabolism. The success of HSCT in metabolic disease is best exemplified through the treatment of Hurler's syndrome, a lysosomal ...
E. Y. Tan +3 more
semanticscholar +1 more source
Translational Science of Rare Diseases, 2020 . Taken as a group, genetic disorders affect a significant proportion of the population. Historically thought of as pediatric disorders, inborn errors of metabolism (IEM) are becoming increasingly relevant to the adult clinical provider; given the ...
M. D. Castro, C. Turner, B. Kirmse
semanticscholar +1 more source
Compounded drugs as an alternative to the therapeutical gaps of inborn errors of metabolism [PDF]
, 2023 Inborn errors of metabolism are rare disorders with few therapeutic options for their treatments, which can make patients suffer with complications. Therefore, compounded drugs might be a promising option given that they have the ability of meeting the ...
Adrielle da Silva Fachini +8 more
core +1 more source
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 We present the case report of a patient with frequently decompensated methylmalonic acidemia (MMA) who was successfully treated with carglumic acid (Carbaglu®, CA). The efficacy and safety of long‐term CA in the management of MMA have been confirmed in a prospective, randomized controlled trial and our report provides additional real‐world evidence on ...
Flavia Tubili +3 more
wiley +1 more source
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 The increase in size of publicly available variant annotation and Mendelian disease databases have allowed for novel approaches to identify the likely direction of effect of genetic mutations. Specifically, we found a simple ratio of missense mutations is capable of identifying genes likely to cause disease through a gain‐of‐function mechanism ...
Andrew K. Ressler, David B. Goldstein
wiley +1 more source
AppQ: Warm-starting App Recommendation Based on View Graphs [PDF]
arXiv, 2021 Current app ranking and recommendation systems are mainly based on user-generated information, e.g., number of downloads and ratings. However, new apps often have few (or even no) user feedback, suffering from the classic cold-start problem. How to quickly identify and then recommend new apps of high quality is a challenging issue.
arxiv
Journal of Pediatric Research, 2018 Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç +4 more
doaj +1 more source
Scientific Reports, 2022 Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal +9 more
doaj +1 more source
Newborn Screening for SCID: Experience in Spain (Catalonia)
International Journal of Neonatal Screening, 2021 Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing.
Ana Argudo-Ramírez +14 more
doaj +1 more source