Cargando…

Ascites in infantile onset type II Sialidosis

Sialidosis is a rare autosomal‐recessive lysosomal storage disease due to mutations in the NEU1 gene leading to a deficit of alpha‐n‐acetyl neuraminidase and causing aberrant accumulation of sialylated glycoproteins/peptides and oligosaccharides in the lysosomes of various organs and tissues. Type I...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tazi, Kaoutar, Guy‐Viterbo, Vanessa, Gheldof, Alexander, Empain, Aurélie, Paternoster, Anne, De Laet, Corinne
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2022
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259393/ https://www.ncbi.nlm.nih.gov/pubmed/35822090 http://dx.doi.org/10.1002/jmd2.12305

Ejemplares similares

Myoclonus generators in sialidosis
por: Vial, Felipe, et al.
Publicado: (2022)

Hematopoietic cell transplantation for sialidosis type I
por: Gupta, Ashish O., et al.
Publicado: (2021)

Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
por: Eyskens, Margot, et al.
Publicado: (2023)

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I
por: Mosca, Rosario, et al.
Publicado: (2020)

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients
por: Arora, Veronica, et al.
Publicado: (2020)

Irritability, Poor Feeding and Respiratory Alkalosis in Newborns: Think about Metabolic Emergencies. A Brief Summary of Hyperammonemia Management
por: Del Re, Stefano, et al.
Publicado: (2020)

Spectral optical coherence tomography in a patient with type I sialidosis
por: Michalewska, Zofia, et al.
Publicado: (2011)

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement
por: Mohammad, Ahmed N., et al.
Publicado: (2018)

Optical coherence tomography features in a case of Type I sialidosis
por: Wang, I-Hua, et al.
Publicado: (2017)

Clinical and genetic characteristics of type I sialidosis patients in mainland China
por: Lv, Rui‐Juan, et al.
Publicado: (2020)

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1
por: Han, Xiaoxu, et al.
Publicado: (2020)

Bergmeister’s papilla in a young patient with type 1 sialidosis: case report
por: Rossi, Settimio, et al.
Publicado: (2020)

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
por: Gultekin, Murat, et al.
Publicado: (2018)

Corrigendum: Optical coherence tomography features in a case of Type I sialidosis
Publicado: (2020)

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
por: Neeraja, Koti, et al.
Publicado: (2021)

Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
por: Hu, Su-Ching, et al.
Publicado: (2018)

Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1
por: Mukherjee, Debaleena, et al.
Publicado: (2021)

Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations
por: Han, Min-Joon, et al.
Publicado: (2020)

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder
por: Khan, Aiza, et al.
Publicado: (2018)

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child
por: Maroofian, Reza, et al.
Publicado: (2018)

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients
por: Coppola, Antonietta, et al.
Publicado: (2020)

Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature
por: Cao, Lan-Xiao, et al.
Publicado: (2021)

Congenital Chylous Ascites: A Rare Cause of Infantile Ascites Treated With MCT-Based Diet and Octreotide
por: Rashid, Rafia, et al.
Publicado: (2021)

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India
por: Ranganath, Prajnya, et al.
Publicado: (2012)

Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption
por: Kho, Ikhui, et al.
Publicado: (2023)

Ascites—II
Publicado: (1909)

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot
por: Daich Varela, Malena, et al.
Publicado: (2021)

Looking “Cherry Red Spot Myoclonus” in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1
por: Riboldi, Giulietta M., et al.
Publicado: (2021)

Anesthetic management for mastectomy and total hysterectomy in a 49-year-old woman with type 1 sialidosis: a case report
por: Furuya, Tomonori, et al.
Publicado: (2021)

Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells
por: Seol, Binna, et al.
Publicado: (2021)

A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene
por: Hassan, Moath, et al.
Publicado: (2021)

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia
por: Paprocka, J, et al.
Publicado: (2019)

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C
por: Capitini, Claudia, et al.
Publicado: (2022)

Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis
por: Zou, Wenjun, et al.
Publicado: (2016)

Prognostic significance of new onset ascites in patients with pancreatic cancer
por: Zervos, Emmanuel E, et al.
Publicado: (2006)

A huge renal cyst mimicking ascites: a case report
por: Riyach, Omar, et al.
Publicado: (2014)

Gaucheroma of Mesenteric Lymph Nodes and Their Ultrasound Appearance: A Case Report
por: Saliba, Thomas, et al.
Publicado: (2023)

Mr. Guy, on Ascites
por: Guy, William
Publicado: (1808)

Management of late onset urea cycle disorders—a remaining challenge for the intensivist?
por: Redant, S., et al.
Publicado: (2021)

Acute-Onset Eosinophilic Gastroenteritis and Ascites Secondary to Occult Toxocariasis
por: Elton, Andrew, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_tcr772mnafoi0366p0bh70nklr