Cargando…

Diagnosis of Kearns–Sayre syndrome requires genetic confirmation

Mostrar otras versiones (1)

Detalles Bibliográficos
Autor principal:	Finsterer, Josef
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2023
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10229953/ https://www.ncbi.nlm.nih.gov/pubmed/36872754 http://dx.doi.org/10.4103/ijo.IJO_1720_22

Ejemplares similares

Diagnosis of Kearns–Sayre syndrome requires genetic confirmation
por: Finsterer, Josef
Publicado: (2023)

Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation
por: Finsterer, Josef, et al.
Publicado: (2016)

Response to comments on: Diagnosis of Kearns-Sayre syndrome requires genetic confirmation
por: Verghese, Shishir, et al.
Publicado: (2023)

Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively
por: Finsterer, Josef, et al.
Publicado: (2016)

Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up
por: Finsterer, Josef, et al.
Publicado: (2016)

Unusual Phenotype and Disease Trajectory in Kearns–Sayre Syndrome
por: Finsterer, Josef, et al.
Publicado: (2020)

Retinoschisis associated with Kearns-Sayre syndrome
por: Chertkof, Julia, et al.
Publicado: (2020)

Choroid plexus failure in the Kearns-Sayre syndrome
por: Spector, Reynold, et al.
Publicado: (2010)

Kearns–Sayre syndrome: An unusual ophthalmic presentation
por: Ahmad, Syed S., et al.
Publicado: (2012)

Novel SLC25A4 variant causes mitochondrial depletion rather than Kearns-Sayre syndrome
por: Finsterer, Josef
Publicado: (2022)

Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation
por: Yu, Meng, et al.
Publicado: (2016)

Kearns Sayre Syndrome: Looking beyond A-V conduction
por: Krishna, Mani Ram
Publicado: (2017)

A Case Report of Kearns-Sayre Syndrome: Not an Absolute Contraindication for Radiotherapy
por: Yap, Shaun Z, et al.
Publicado: (2023)

Kearns Sayre Syndrome (KSS) - A Rare Cause For Cardiac Pacing
por: Gobu, P, et al.
Publicado: (2011)

General Anaesthesia for Laparoscopic Cholecystectomy in a Patient with the Kearns-Sayre Syndrome
por: Calzavacca, Paolo, et al.
Publicado: (2011)

Kearns–Sayre syndrome: a case series of 35 adults and children
por: Khambatta, Sherezade, et al.
Publicado: (2014)

Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report
por: Faris, Ali S, et al.
Publicado: (2014)

Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report
por: ASHRAFZADEH, Farah, et al.
Publicado: (2013)

Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study
por: Luca, Pasquini, et al.
Publicado: (2020)

Kearns-Sayre Syndrome With Persistent Ventricular Tachycardia Refractory to Shocks and Medications
por: Udongwo, Ndausung, et al.
Publicado: (2021)

Lady in red: A case of Kearns–Sayre syndrome supported by histopathology
por: Godani, Kanika, et al.
Publicado: (2022)

Case Report: Kearns Sayre Syndrome Complicated With Postpartum Cardiac Failure
por: Han, Caixia, et al.
Publicado: (2022)

Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension
por: Weitgasser, Laurenz, et al.
Publicado: (2015)

Peripheral Nerve Block is Safely Administered in a Patient with Kearns–Sayre Syndrome
por: Kwon, Woo-Jin, et al.
Publicado: (2016)

Kearns–Sayre syndrome: Two case reports and a review for the primary care physician
por: Richmond, Chad, et al.
Publicado: (2023)

Kearns–Sayre syndrome with a novel large-scale deletion: a case report
por: Zhu, Qin, et al.
Publicado: (2022)

Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
por: Ennejjar, Amine, et al.
Publicado: (2022)

Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation
por: Zhao, Huan, et al.
Publicado: (2022)

Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
por: Grigalionienė, Kristina, et al.
Publicado: (2022)

Ophthalmoplegia, pigmentary retinopathy, and abnormal cardiac conduction: A rare case of Kearns-Sayre syndrome
por: Nadeem, Arsalan, et al.
Publicado: (2023)

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
por: Quijada-Fraile, Pilar, et al.
Publicado: (2014)

Kearns Sayre syndrome: a rare etiology of complete atrioventricular block in children (case report)
por: Kharbouch, Hanane, et al.
Publicado: (2021)

De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report
por: Mihai, Cristina Maria, et al.
Publicado: (2009)

Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy
por: Sebastiá, Roberto, et al.
Publicado: (2014)

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome
por: Yu, Meng, et al.
Publicado: (2016)

Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns–Sayre syndrome
por: Ortiz, Alvaro, et al.
Publicado: (2017)

Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome
por: Lester Sequiera, Glen, et al.
Publicado: (2021)

Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome
por: Comte, Caroline, et al.
Publicado: (2013)

A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation
por: Leal, Mayela, et al.
Publicado: (2016)

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
por: Gloria Pang, Shir Wey, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_m5b6v8t0js8on8dpq9073n8anq