Cargando…

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

Detalles Bibliográficos
Autores principales:	Elsayed, Solaf Mohamed, Torre, Enza, Tavian, Daniela, Moro, Laura, Angelini, Corrado, Abdel Ghaffar, Tawhida Y., Zalata, Khalid, Fahmy, Enas Ezzeldein, Missaglia, Sara
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Chongqing Medical University 2022
Materias:	Rapid Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308162/ https://www.ncbi.nlm.nih.gov/pubmed/37396517 http://dx.doi.org/10.1016/j.gendis.2022.08.005

Ejemplares similares

Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
por: Tavian, Daniela, et al.
Publicado: (2021)

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
por: Eskiocak, Ali Haydar, et al.
Publicado: (2019)

Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene
por: Redaelli, Chiara, et al.
Publicado: (2010)

Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene
por: Redaelli, Chiara, et al.
Publicado: (2011)

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter
por: Missaglia, Sara, et al.
Publicado: (2014)

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
por: Durdu, Murat, et al.
Publicado: (2018)

Erratum: Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene
Publicado: (2020)

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings
por: Arslansoyu Çamlar, Seçil, et al.
Publicado: (2013)

A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene
por: Nakhaei, Shahrbanoo, et al.
Publicado: (2018)

Chanarin-Dorfman syndrome treatment with acitretin
por: AlNeyadi, Reem, et al.
Publicado: (2022)

ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production
por: Vieyres, Gabrielle, et al.
Publicado: (2016)

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
por: Louhichi, Nacim, et al.
Publicado: (2019)

Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly
por: Arora, Sandeep, et al.
Publicado: (2017)

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome
por: Kopp, Julia, et al.
Publicado: (2021)

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
por: Liang, Bo, et al.
Publicado: (2022)

An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis
por: Habash, Nawras, et al.
Publicado: (2021)

Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder
por: Mangukiya, Nisarg P, et al.
Publicado: (2023)

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis
por: Abdel Ghaffar, Tawhida Y, et al.
Publicado: (2011)

Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome
por: Akyay, Arzu, et al.
Publicado: (2020)

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
por: Missaglia, Sara, et al.
Publicado: (2018)

A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report
por: Ersoy, Özdal, et al.
Publicado: (2011)

Imaging Mass Spectrometry Visualizes Ceramides and the Pathogenesis of Dorfman-Chanarin Syndrome Due to Ceramide Metabolic Abnormality in the Skin
por: Goto-Inoue, Naoko, et al.
Publicado: (2012)

Neutral lipid storage disease with myopathy: A 10-year follow-up case report
por: Missaglia, Sara, et al.
Publicado: (2022)

Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients
por: Abdel Ghaffar, Tawhida Y, et al.
Publicado: (2011)

Metabolic lipid muscle disorders: biomarkers and treatment
por: Angelini, Corrado, et al.
Publicado: (2019)

Extra-hepatic portal vein thrombosis in children: Single center experience
por: Abdel-Ghaffar, Tawhida Yassin, et al.
Publicado: (2023)

MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy
por: Pegoraro, Valentina, et al.
Publicado: (2019)

Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients
por: Missaglia, Sara, et al.
Publicado: (2020)

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature
por: Abdel Ghaffar, Tawhida Y., et al.
Publicado: (2020)

Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*)
por: Quelhas da Costa, Rita, et al.
Publicado: (2021)

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
por: Tavian, Daniela, et al.
Publicado: (2019)

Novel variants identified in CKAP2L in two siblings with Filippi syndrome
por: Patrick, Ryan J., et al.
Publicado: (2022)

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation
por: Lyon, Gholson J., et al.
Publicado: (2019)

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome
por: Koboldt, Daniel C., et al.
Publicado: (2018)

Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay
por: Kamat, Siddhesh S., et al.
Publicado: (2015)

Whole genome sequencing suggests transmission of Corynebacterium diphtheriae-caused cutaneous diphtheria in two siblings, Germany, 2018
por: Berger, Anja, et al.
Publicado: (2019)

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature
por: Okur, Volkan, et al.
Publicado: (2018)

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
por: Ramadesikan, Swetha, et al.
Publicado: (2022)

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature
por: Iida, Aritoshi, et al.
Publicado: (2019)

Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease
por: Xu, Jun, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_e24jvudml1j4u1s42jfkr7ba7j