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30 de jul. de 2002 · Suggestive Findings. Glucose transporter type 1 deficiency syndrome (Glut1 DS) should be suspected in individuals with one of the following two phenotypes. Classic Glut1 DS (~90% of affected individuals) Non-classic Glut1 DS (~10% of affected individuals)
3 de abr. de 2024 · MPDU1 (Mannose-P-Dolichol Utilization Defect 1) is a Protein Coding gene. Diseases associated with MPDU1 include Congenital Disorder Of Glycosylation, Type If and Developmental And Epileptic Encephalopathy 36 . Among its related pathways are Diseases of glycosylation and Metabolism of proteins .
17 de sept. de 1999 · DM1 is caused by expansion of a CTG trinucleotide repeat in the noncoding region of DMPK. The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK. CTG repeat length exceeding 34 repeats is abnormal.
Description. Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use.
7 de feb. de 2021 · Multiple genetic abnormalities at different loci have been found to contribute to type 1 diabetes development. The analysis of genome-wide association studies (GWAS) of T1D has identified over 50 susceptible regions (and genes within these regions).
The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.
15 de jun. de 2022 · Your body needs folate to make DNA and modify proteins. 1. MTHFR and Birth Defects. Healthcare Providers: Read the new Medscape article “ MTHFR and Birth Defects: Does Type of Folate Matter? A gene variant is a change in a DNA sequence that is different from the expected DNA sequence.
