Mitochondrial dysfunction in inherited renal disease and acute kidney injury
Mitochondria are increasingly recognized as key players in genetic and acquired renal
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …
Renal manifestations of primary mitochondrial disorders
J Finsterer, F Scorza - Biomedical reports, 2017 - spandidos-publications.com
The aim of the present review was to summarize and discuss previous findings concerning
renal manifestations of primary mitochondrial disorders (MIDs). A literature review was …
renal manifestations of primary mitochondrial disorders (MIDs). A literature review was …
Mitochondrial cytopathies and the kidney
F Emma, L Salviati - Nephrologie & therapeutique, 2017 - Elsevier
Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized
by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is …
by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is …
[HTML][HTML] Diagnostic approach in infants and children with mitochondrial diseases
CS Chi - Pediatrics & Neonatology, 2015 - Elsevier
Mitochondrial diseases are a heterogeneous group of disorders affecting energy production
in the human body. The diagnosis of mitochondrial diseases represents a challenge to …
in the human body. The diagnosis of mitochondrial diseases represents a challenge to …
Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
J Finsterer, S Zarrouk-Mahjoub - Neuropsychiatric disease and …, 2017 - Taylor & Francis
Objectives Mitochondrial disorders (MIDs) frequently present as mitochondrial multiorgan
disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study …
disorder syndrome (MIMODS) at onset or evolve into MIMODS during the course. This study …
Gastrointestinal involvement in neuromuscular disorders
J Finsterer, W Strobl - Journal of Gastroenterology and …, 2024 - Wiley Online Library
Although not often discussed, many of the neuromuscular disorders (NMDs) affect the
gastrointestinal tract (GIT). Depending on the type of NMD, the prevalence of GIT …
gastrointestinal tract (GIT). Depending on the type of NMD, the prevalence of GIT …
[HTML][HTML] A novel mitochondrial DNA deletion in patient with Pearson syndrome
R Khasawneh, H Alsokhni, B Alzghoul, A Momani… - Medical …, 2018 - ncbi.nlm.nih.gov
ABSTRACT Introduction: Arteriovenous Pearson syndrome is a very rare multisystemic
mitochondrial disease characterized by sideroblastic anemia and exocrine pancreatic …
mitochondrial disease characterized by sideroblastic anemia and exocrine pancreatic …
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome
C Hernández-Ainsa, E López-Gallardo… - Disease Models & …, 2022 - journals.biologists.com
Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial
DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly …
DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly …
[HTML][HTML] A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis
C Shoeleh, UM Donato, A Galligan, J Vitko - Cureus, 2023 - ncbi.nlm.nih.gov
Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a
result of defective oxidative phosphorylation caused by mitochondrial DNA mutations. The …
result of defective oxidative phosphorylation caused by mitochondrial DNA mutations. The …
线粒体相关肾病2 例病例报告及文献复习
李国民， 孙利， 沈茜， 徐虹， 方晓燕， 曹琦， 刘海梅… - 中国循证儿科杂志, 2015 - cjebp.net
目的总结2 例线粒体相关肾病患儿临床特征及基因突变的特点, 提高对该病的认识. 方法收集2
例线粒体相关肾病患儿的病史特点, 肾脏病理, 相关实验室检查和家族史等资料 …
例线粒体相关肾病患儿的病史特点, 肾脏病理, 相关实验室检查和家族史等资料 …