Cargando…

Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency

Detalles Bibliográficos
Autores principales:	Wei, Cui-Jie, Chang, Xing-Zhi, Ge, Lin, Fu, Xiao-Na, Fan, Yan-Bin, Liu, Jie-Yu, Wang, Shuang, Li, Hai-Li, Yang, Yan-Ling, Xiong, Hui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2020
Materias:	Clinical Observations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289308/ https://www.ncbi.nlm.nih.gov/pubmed/32515919 http://dx.doi.org/10.1097/CM9.0000000000000805

Ejemplares similares

Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family()
por: Fu, Xiaona, et al.
Publicado: (2015)

Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency
por: Grünert, Sarah Catharina, et al.
Publicado: (2022)

Biomaterials and Advanced Biofabrication Techniques in hiPSCs Based Neuromyopathic Disease Modeling
por: Sun, Jing, et al.
Publicado: (2019)

Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health
por: Miklas, Jason W., et al.
Publicado: (2020)

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency
por: Suyama, Tomonori, et al.
Publicado: (2020)

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
por: Ørstavik, Kristin, et al.
Publicado: (2022)

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
por: Nakama, Mina, et al.
Publicado: (2020)

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
por: Schwantje, Marit, et al.
Publicado: (2022)

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations
por: Yang, Jinling, et al.
Publicado: (2022)

Potential protein–phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients
por: Tang, Wen-Juan, et al.
Publicado: (2021)

Expansion microscopy with carboxylic trifunctional linkers: Expansion microscopy with carboxylic trifunctional linkers
por: Chen, Xuecheng, et al.
Publicado: (2022)

High prevalence of cerebral venous sinus thrombosis in seven Chinese patients with cystathionine β-synthase deficiency
por: Wen, Yan-Bin, et al.
Publicado: (2020)

Reversible Cerebral Vasoconstriction Syndrome and Multisystem Inflammatory Syndrome in Children With COVID-19
por: Sadeghizadeh, Atefeh, et al.
Publicado: (2022)

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
por: Schwantje, Marit, et al.
Publicado: (2022)

Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report
por: Stolwijk, Nina N., et al.
Publicado: (2022)

Recurrent Rhabdomyolysis, Acute Kidney Injury, and Foot Drop: A Rare Case with Mitochondrial Trifunctional Protein (MTP) Deficiency
por: Dabla, Surekha, et al.
Publicado: (2022)

Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene as a tumour suppressor in stomach adenocarcinoma
por: Li, Yun, et al.
Publicado: (2022)

Regulation of mitochondrial trifunctional protein modulates nonalcoholic fatty liver disease in mice
por: Nassir, Fatiha, et al.
Publicado: (2018)

The enzyme activity of mitochondrial trifunctional protein is not altered by lysine acetylation or lysine succinylation
por: Zhang, Yuxun, et al.
Publicado: (2021)

SIRT1 deacetylates mitochondrial trifunctional enzyme α subunit to inhibit ubiquitylation and decrease insulin resistance
por: Wang, Yan-Mei, et al.
Publicado: (2020)

Acute Large Vessel Ischemic Stroke in Patients With COVID-19–Related Multisystem Inflammatory Syndrome
por: Chang, Jaimie, et al.
Publicado: (2022)

Outcomes of multisystem inflammatory syndrome in children temporally related to COVID-19: a longitudinal study
por: Bagri, Narendra Kumar, et al.
Publicado: (2021)

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis
por: Bo, Ryosuke, et al.
Publicado: (2015)

Tumor Targeting, Trifunctional Dendritic Wedge
por: Dubey, Ramin, et al.
Publicado: (2014)

Hepatitis C Virus Attenuates Mitochondrial Lipid β-Oxidation by Downregulating Mitochondrial Trifunctional-Protein Expression
por: Amako, Yutaka, et al.
Publicado: (2015)

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
por: Lotz-Havla, Amelie S., et al.
Publicado: (2018)

Short-term outcomes in children recovered from multisystem inflammatory syndrome associated with SARS-CoV-2 infection
por: Patnaik, Sibabratta, et al.
Publicado: (2021)

Long-Term Incubation of Lake Water Enables Genomic Sampling of Consortia Involving Planctomycetes and Candidate Phyla Radiation Bacteria
por: Jaffe, Alexander L., et al.
Publicado: (2022)

Synthesis of trifunctional cyclo-β-tripeptide templates
por: Stein, Frank, et al.
Publicado: (2012)

Fatty Acid Accumulation and Resulting PPARα Activation in Fibroblasts due to Trifunctional Protein Deficiency
por: Wakabayashi, Masato, et al.
Publicado: (2012)

Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase
por: Hüller, Cornelia, et al.
Publicado: (2011)

Detection of Atypical Salmonella Infantis Phenotypes in Broiler Environmental Samples
por: Hess, Claudia, et al.
Publicado: (2023)

White matter connection's damage, not cortical activation, leading to language dysfunction of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes
por: Ye, Na, et al.
Publicado: (2019)

Overexpression of Ubiquilin4 is associated with poor prognosis in patients with cervical cancer
por: Wang, Li-Na, et al.
Publicado: (2022)

Different phenotypes of monocytes in patients with new-onset mild acute pancreatitis
por: Zhang, Man-Li, et al.
Publicado: (2017)

Deficient Phagocytosis in Circulating Monocytes from Patients with COVID-19-Associated Mucormycosis
por: Sinha, Bishnu Prasad, et al.
Publicado: (2023)

Trifunctional nanoprecipitates ductilize and toughen a strong laminated metastable titanium alloy
por: Zhang, Chongle, et al.
Publicado: (2023)

Detection of metastatic cancer cells in mesentery of colorectal cancer patients
por: Luo, Xue-Lai, et al.
Publicado: (2017)

Attitudes, Knowledge, and Practices Regarding Blood Glucose Control: A Survey of Intensive Care Unit Professionals
por: Liu, Xu, et al.
Publicado: (2018)

Novel Insights into Staphylococcus aureus Deep Bone Infections: the Involvement of Osteocytes
por: Yang, Dongqing, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_0nsnf18l6nohgfpdhs8el2kpsh