Cargando…

Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review

Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the PEX gene family. Patients with ZSD have profound neurologic impairments, including seizures, severe retardation, and dysm...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Kai, Zhang, Na, Shao, Jing-Bo, Li, Hong, Li, Jie, Xi, Jia-Ming, Xu, Wu-Hen, Jiang, Hui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8424192/ https://www.ncbi.nlm.nih.gov/pubmed/34513757 http://dx.doi.org/10.3389/fped.2021.672187

Ejemplares similares

Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
por: Slaton, Daniel, et al.
Publicado: (2023)

PEX13-knockout mice model Zellweger syndrome
Publicado: (2011)

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
por: Bousfiha, Amale, et al.
Publicado: (2017)

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
por: Borgia, Paola, et al.
Publicado: (2022)

PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome
por: He, Yue, et al.
Publicado: (2021)

Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders
por: Bakhtiar, Shahrzad, et al.
Publicado: (2019)

Neonate with classic Zellweger syndrome
por: Kashgari, Amna
Publicado: (2019)

A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder
por: Tanaka, Akemi J., et al.
Publicado: (2019)

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants
por: Lipiński, Patryk, et al.
Publicado: (2019)

The Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis
por: Qu, Yuhua, et al.
Publicado: (2022)

AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder
por: Argyriou, Catherine, et al.
Publicado: (2021)

Neurological complications following pediatric allogeneic hematopoietic stem cell transplantation: Risk factors and outcome
por: Zaidman, Irina, et al.
Publicado: (2022)

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
por: Blomqvist, Maria, et al.
Publicado: (2017)

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder
por: Semenova, Natalia A., et al.
Publicado: (2021)

Drosophila Carrying Pex3 or Pex16 Mutations Are Models of Zellweger Syndrome That Reflect Its Symptoms Associated with the Absence of Peroxisomes
por: Nakayama, Minoru, et al.
Publicado: (2011)

Allogeneic Hematopoietic Stem Cell Transplantation for Children With Acute Lymphoblastic Leukemia: Shifting Indications in the Era of Immunotherapy
por: Truong, Tony H., et al.
Publicado: (2021)

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review
por: Lee, Whiwon, et al.
Publicado: (2020)

Phenotypes and Baseline Risk Factors of Acute Kidney Injury in Children After Allogeneic Hematopoietic Stem Cell Transplantation
por: Daraskevicius, Justinas, et al.
Publicado: (2020)

Avatrombopag for the treatment of thrombocytopenia in children's patients following allogeneic hematopoietic stem-cell transplantation: A pilot study
por: Ruan, Yongsheng, et al.
Publicado: (2023)

A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review
por: Lu, Pei, et al.
Publicado: (2021)

Immune Monitoring After Allogeneic Hematopoietic Cell Transplantation: Toward Practical Guidelines and Standardization
por: Boelens, Jaap Jan, et al.
Publicado: (2020)

Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency
por: Fazi, C., et al.
Publicado: (2022)

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female
por: Barillari, Maria Rosaria, et al.
Publicado: (2020)

The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT
por: Bakhtiar, Shahrzad, et al.
Publicado: (2019)

Hematopoietic Stem Cell Transplantation for Primary Immunodeficiencies
por: Gennery, Andrew R., et al.
Publicado: (2019)

Case Report: Immune Dysregulation Due to Toxoplasma gondii Reactivation After Allogeneic Hematopoietic Cell Transplant
por: Lindell, Robert B., et al.
Publicado: (2021)

A Guidance for Concomitant Drug Reconciliation Prior to Allogeneic Hematopoietic Cell Transplantation in Children and Young Adults
por: Apsel Winger, Beth, et al.
Publicado: (2021)

Case Report: Liver as a Source of Hematopoietic Stem Cells After Liver Transplantation Following Hematopoietic Stem Cell Transplantation
por: Jarmoliński, Tomasz, et al.
Publicado: (2022)

Cholic acid therapy in Zellweger spectrum disorders
por: Berendse, Kevin, et al.
Publicado: (2016)

Case report: Application of nirmatrelvir/ritonavir to treat COVID-19 in a severe aplastic anemia child after allogeneic hematopoietic stem cell transplantation
por: Huang, Jinhua, et al.
Publicado: (2022)

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID
por: Henrickson, Sarah E., et al.
Publicado: (2019)

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism
por: Tan, Emily Y., et al.
Publicado: (2019)

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population
por: Levesque, Sebastien, et al.
Publicado: (2012)

Splenic rupture and fungal endocarditis in a pediatric patient with invasive fusariosis after allogeneic hematopoietic stem cell transplantation for aplastic anemia: A case report
por: Hannemann, Maurice, et al.
Publicado: (2022)

Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency (SCID)
por: Haddad, Elie, et al.
Publicado: (2019)

Zellweger spectrum disorders: clinical overview and management approach
por: Klouwer, Femke C. C., et al.
Publicado: (2015)

Renal oxalate stones in children with Zellweger spectrum disorders
por: Alhazmi, Hamdan Hammad
Publicado: (2018)

Cholbam® and Zellweger spectrum disorders: treatment implementation and management
por: Anderson, Janaina Nogueira, et al.
Publicado: (2021)

Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder
por: Hsu, Mark, et al.
Publicado: (2023)

PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress
por: Müller, C. Catharina, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_ikf6vesg6olhr9dv7q0k32r57p