Results 51 to 60 of about 198,582 (348)
A proposed nosology of inborn errors of metabolism
Genetics in Medicine, 2018 We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
C. Ferreira +3 more
semanticscholar +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
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
Journal of Global Health, 2018 Background Inborn errors of metabolism (IEM) are a group of over 500 heterogeneous disorders resulting from a defect in functioning of an intermediate metabolic pathway.
Donald Waters +5 more
semanticscholar +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
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
The protein cost of metabolic fluxes: prediction from enzymatic rate laws and cost minimization [PDF]
, 2016 Bacterial growth depends crucially on metabolic fluxes, which are limited by the cell's capacity to maintain metabolic enzymes. The necessary enzyme amount per unit flux is a major determinant of metabolic strategies both in evolution and bioengineering.
arxiv +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
Inborn Errors of Energy Metabolism Associated with Myopathies [PDF]
, 2010 Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy ...
Das, Anibh M. +2 more
core +4 more sources
Journal of Inherited Metabolic Disease, 2018 The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to ...
K. Coene +17 more
semanticscholar +1 more source