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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 .
30 de jul. de 2002 · 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)
14 de mar. de 2022 · IGF1 gene deletion or IGF1 receptor ( IGF1R) gene defect. Additional conditions leading to congenital IGF1 deficiency include defective post-GHR signaling (e.g., STAT5 defect) as well as a...
17 de set. de 1999 · Clinical characteristics. Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system.
10 de out. de 2016 · Abstract. FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks.
16 de dez. de 2015 · GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity.
18 de ago. de 2017 · Article Open access 10 December 2021. Introduction. Osteogenesis imperfecta — also known as brittle bone disease — is a phenotypically and genetically heterogeneous group of inherited bone...
