Cargando…

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

BACKGROUND: Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise...

Descripción completa

Detalles Bibliográficos
Autores principales:	Heo, Sun Hee, Kang, Eungu, Kim, Yoon-Myung, Go, Heounjeong, Kim, Kyung Yong, Jung, Jae Yong, Kang, Minji, Kim, Gu-Hwan, Kim, Jae-Min, Choi, In-Hee, Choi, Jin-Ho, Jung, Sung-Chul, Desnick, Robert J, Yoo, Han-Wook, Lee, Beom Hee
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2017
Materias:	Biochemical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740533/ https://www.ncbi.nlm.nih.gov/pubmed/28835480 http://dx.doi.org/10.1136/jmedgenet-2017-104704

Ejemplares similares

Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease
por: Kang, Eungu, et al.
Publicado: (2017)

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening
por: Kang, Eungu, et al.
Publicado: (2018)

Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea
por: Choi, Jin-Ho, et al.
Publicado: (2017)

Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells
por: Do, Hyo-Sang, et al.
Publicado: (2020)

Clinical characteristics and treatment outcomes in Camurati–Engelmann disease: A case series
por: Kim, Yoon-Myung, et al.
Publicado: (2018)

Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia
por: Kim, Hyun Jin, et al.
Publicado: (2017)

Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression
por: Kang, Eungu, et al.
Publicado: (2022)

The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums
por: Seo, Go Hun, et al.
Publicado: (2018)

MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
por: Kim, Joonil, et al.
Publicado: (2016)

Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A
por: Cho, Ja Hyang, et al.
Publicado: (2016)

DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
por: Cho, Ja Hyang, et al.
Publicado: (2017)

Endocrine dysfunctions in children with Williams-Beuren syndrome
por: Kim, Yoon-Myung, et al.
Publicado: (2016)

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype
por: Choi, Jin-Ho, et al.
Publicado: (2017)

Turner syndrome presented with tall stature due to overdosage of the SHOX gene
por: Seo, Go Hun, et al.
Publicado: (2015)

Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome
por: Jeong, Insook, et al.
Publicado: (2016)

Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease
por: Choi, Jin-Ho, et al.
Publicado: (2008)

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
por: Choi, Yunha, et al.
Publicado: (2022)

Enhanced immune response by vacuoles isolated from Saccharomyces cerevisiae in RAW 264.7 macrophages
por: Lee, Su-Min, et al.
Publicado: (2021)

Neurofibromatosis type I: points to be considered by general pediatricians
por: Kang, Eungu, et al.
Publicado: (2020)

A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease
por: Hwang, Soojin, et al.
Publicado: (2022)

A Remnant Mitral Subvalvular Apparatus Mimicking Aortic Valve Vegetation after Mitral Valve Replacement
por: Kim, Hyun-Jin, et al.
Publicado: (2012)

Anti-Inflammatory Activity of Citric Acid-Treated Wheat Germ Extract in Lipopolysaccharide-Stimulated Macrophages
por: Jeong, Hee-Yeong, et al.
Publicado: (2017)

Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease
por: Kim, Il Young, et al.
Publicado: (2021)

Clinical and genetic analyses of patients with lateralized overgrowth
por: Kim, Yoon-Myung, et al.
Publicado: (2022)

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
por: Seo, Go Hun, et al.
Publicado: (2022)

Duration of anuria predicts recovery of renal function after acute kidney injury requiring continuous renal replacement therapy
por: Jung, Hee-Yeon, et al.
Publicado: (2016)

Modifying effect of the serum level of brain-derived neurotrophic factor (BDNF) on the association between BDNF methylation and long-term cardiovascular outcomes in patients with acute coronary syndrome
por: Choi, Wonsuk, et al.
Publicado: (2023)

Modifying Effect of the Interleukin-18 Level on the Association between BDNF Methylation and Long-Term Cardiovascular Outcomes in Patients with Acute Coronary Syndrome
por: Choi, Wonsuk, et al.
Publicado: (2022)

Nafamostat Mesilate as an Anticoagulant During Continuous Renal Replacement Therapy in Patients With High Bleeding Risk: A Randomized Clinical Trial
por: Choi, Ji-Young, et al.
Publicado: (2015)

The Risk for Incident Ischemic Heart Disease According to Estimated Glomerular Filtration Rate in A Korean Population
por: Park, Sung Keun, et al.
Publicado: (2020)

Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease
por: Kim, Ji-Hoon, et al.
Publicado: (2017)

A Case of Fabry Cardiomyopathy
por: Nah, Jong Chun, et al.
Publicado: (2009)

Impact of Hormone Replacement Therapy on Risk of Ovarian Cancer in Postmenopausal Women with De Novo Endometriosis or a History of Endometriosis
por: Lee, Hee Joong, et al.
Publicado: (2023)

The risk factors of miscarriage and obstetrical outcomes of intrauterine normal pregnancy following heterotopic pregnancy management
por: Na, Eun Duc, et al.
Publicado: (2018)

Chronic eosinophilic leukemia with a FIP1L1-PDGFRA rearrangement: Two case reports and a review of Korean cases
por: Shin, Sang-Yong, et al.
Publicado: (2015)

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
por: Seo, Go Hun, et al.
Publicado: (2020)

Classification of severe aortic stenosis and outcomes after aortic valve replacement
por: Ahn, Yura, et al.
Publicado: (2022)

Comparison of Initial Presentation of Pediatric Diabetes Before and During the Coronavirus Disease 2019 Pandemic Era
por: Lee, Yoonha, et al.
Publicado: (2022)

Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease
por: Park, Jung-Young, et al.
Publicado: (2009)

Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer
por: Choi, Jin-Ok, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_mvfa8d3ik3fg4i9k17tokttoie