Zobrazeno 1 - 10
of 1 105
pro vyhledávání: '"mitochondrial disorder"'
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Obesity has emerged as a prominent global public health concern, leading to the development of numerous metabolic disorders such as cardiovascular diseases, type−2 diabetes mellitus (T2DM), sleep apnea and several system diseases. It is widely reco
Externí odkaz:
https://doaj.org/article/646defeb82c34d24a3966d854cb49c56
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundCoenzyme Q10 (CoQ10) plays an important role in the electron transport chain within the human mitochondrial respiratory chain. The manifestations of this deficiency exhibit a diverse range. This study investigates the clinical manifestation
Externí odkaz:
https://doaj.org/article/fe229a014902458c8b4af7076629e92e
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
IntroductionVariants in the PARS2 gene have been previously associated with developmental and epileptic encephalopathy. PARS2 deficiency was characterized as a neurodevelopmental and neurodegenerative disorder with early-onset seizures and global dev
Externí odkaz:
https://doaj.org/article/1398fe71cc8b4944a8033c92be4883f1
Autor:
Daniela V. Pinto Payares, Logan Spooner, Jennifer Vosters, Samantha Dominguez, Lauren Patrick, Ann Harris, Shibani Kanungo
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
IntroductionMitochondrial diseases are known inborn errors affecting energy metabolism and are as common as chronic diseases such as diabetes, affecting approximately 1 in 5,000 people. The role of mitochondrial diseases/dysfunction has been highligh
Externí odkaz:
https://doaj.org/article/bcc3ca16d5864e1dbbc5eb4398d16982
Autor:
Manuela Schubert Baldo, Luísa Azevedo, Margarida Paiva Coelho, Esmeralda Martins, Laura Vilarinho
Publikováno v:
Diagnostics, Vol 14, Iss 19, p 2133 (2024)
Background: Leigh syndrome spectrum (LSS) is a novel nomenclature that encompasses both classical Leigh syndrome and Leigh-like phenotypes. Given the heterogeneity of disease presentation, a new consensus published recently addressed the main issues
Externí odkaz:
https://doaj.org/article/3c22373150b2485ebbad8136b9b365d0
Autor:
Finsterer J
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 17, Pp 401-402 (2024)
Josef Finsterer Neurology & Neurophysiology Center, Vienna, AustriaCorrespondence: Josef Finsterer, Neurological Department, Neurology and Neurophysiology Center, Postfach 20, Vienna, 1180, Austria, Tel/Fax +43-1-5861075, Email fifigs1@yahoo.de
Externí odkaz:
https://doaj.org/article/5164c1f6df1044ac8fa3a4a0301534f5
Autor:
Parith Wongkittichote, Sanmati R. Cuddapah, Stephen R. Master, Dorothy K. Grange, Dennis Dietzen, Stephen M. Roper, Rebecca D. Ganetzky
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 367-374 (2023)
Abstract Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglu
Externí odkaz:
https://doaj.org/article/78e25699a85f48dfa105ff6dbe8a8d83
Autor:
Ziske Maritska, Nita Parisa, Mathius Karina, Marco Manza Putra, Noviyanti Eliska, Muhammad Irga, Maya Rina Santara Manurung, Andre Saputra
Publikováno v:
Indonesian Journal of Anesthesiology and Reanimation (IJAR), Vol 5, Iss 2, Pp 102-111 (2023)
Introduction: Mitochondrial Disorders (1/4,000 patients) are rare and caused by dysfunctional mitochondria. Anesthetic consideration in patients with Mitochondrial Disorders involves careful preoperative and perioperative observations. Objective: To
Externí odkaz:
https://doaj.org/article/3014585026f54c938d687d164f6c4d75
Publikováno v:
Epilepsy & Behavior Reports, Vol 25, Iss , Pp 100652- (2024)
Behr syndrome is associated with compound heterozygous dysfunction in OPA1 gene and typically presents with a constellation of visual impairment due to early onset optic atrophy, cerebellar ataxia, peripheral neuropathy, deafness, and gastrointestina
Externí odkaz:
https://doaj.org/article/78b9d9378d2742c094878487005013ee
Autor:
Megan Kasetty, Michael Altman
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 32, Iss , Pp 101938- (2023)
Purpose: To describe a neuro-ophthalmic presentation of a phenotypically heterogeneous mitochondrial DNA variant. Observations: A 10-year-old female with gross motor developmental delay, absence seizures and ataxia subacutely developed poor near acui
Externí odkaz:
https://doaj.org/article/dbb3bd67ac474170a0f259be25b15dbf