Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation
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DOI: 10.1002/jimd.12595
Abstract: Congenital disorders of glycosylation (CDG) and Niemann‐Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile‐onset severe liver disease and other multisystemic manifestations. Plasma bile acid and N‐palmitoyl‐O‐phosphocholineserine (PPCS)… read more here.
Keywords: cdg; disease; disorders glycosylation; palmitoyl phosphocholineserine ... See more keywords
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
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DOI: 10.1007/s10545-017-0066-y
Abstract: Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild… read more here.
Keywords: literature; congenital disorders; disorders glycosylation; review ... See more keywords
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
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DOI: 10.1016/j.nrl.2017.05.002
Abstract: La glucosilación de las proteínas es fundamental en el correcto funcionamiento de numerosos procesos biológicos, como el plegamiento y la estabilidad de las proteínas, la unión a receptores intracelulares, la comunicación intracelular, etc.1. Las mutaciones… read more here.
Keywords: congenital disorders; las prote; los; disorders glycosylation ... See more keywords
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
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DOI: 10.1016/j.ymgme.2016.12.014
Abstract: BACKGROUND Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II).… read more here.
Keywords: cdg; cdg cdg; congenital disorders; disorders glycosylation ... See more keywords
B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature
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DOI: 10.1111/cge.13735
Abstract: A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we… read more here.
Keywords: b4galt1 congenital; congenital disorders; disorders glycosylation; phenotypic ... See more keywords
Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation
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DOI: 10.1111/ene.14013
Abstract: Congenital disorders of glycosylation (CDG) constitutes a rare group of inborn error of metabolism with myriad clinical presentation due to multisystem involvement. They are caused by mutations in the genes encoding for enzymes involved in… read more here.
Keywords: hyperkinetic movement; congenital disorders; disorders glycosylation; expanding phenotype ... See more keywords
Prevalence of coat colour traits and congenital disorders of South American camelids in Austria, Germany and Switzerland
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DOI: 10.1186/s13028-020-00554-y
Abstract: Background The increasing popularity of alpacas and llamas outside of South America is undeniable. The associated limited genetic diversity raises questions about health and other genetically determined traits like coat colour. Therefore, a survey studying… read more here.
Keywords: coat colour; congenital disorders; south american; austria germany ... See more keywords
Maternal infection with Zika virus and prevalence of congenital disorders in infants: systematic review and meta-analysis
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DOI: 10.17269/s41997-019-00215-2
Abstract: ObjectiveZika virus (ZIKV) infection is a vector-borne disease that can be transmitted sexually and vertically. The vertical transmission of the virus may lead to congenital Zika syndrome in infants. The aim of this study is… read more here.
Keywords: congenital disorders; disorders infants; prevalence congenital; infection ... See more keywords
Congenital Disorders of the Pediatric Thumb
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DOI: 10.2106/jbjs.rvw.21.00147
Abstract: » Surgical timing for pediatric trigger thumb treatment is controversial for numerous reasons including the potential for spontaneous resolution, the possibility of bilateral involvement, and anesthesia concerns regarding the developing brain. Hence, a reasonable approach… read more here.
Keywords: disorders pediatric; pediatric thumb; thumb; surgical procedure ... See more keywords
Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies
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DOI: 10.3389/fgene.2020.00688
Abstract: In the last few years, the role of non-coding regulatory elements and their involvement in human disease have received great attention. Among the non-coding regulatory sequences, enhancers are particularly important for the proper establishment of… read more here.
Keywords: congenital disorders; disruption; structural disruption; human neurocristopathies ... See more keywords
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.869031
Abstract: Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans. Recently, immunological dysfunctions in several… read more here.
Keywords: cell; cdg; pmm2 cdg; glycosylation ... See more keywords