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Category:Kearns-Sayre syndrome

<nowiki>miopatia mitocondriale; syndrome de Kearns-Sayre; Kearns-Sayre-ren sindrome; Синдром Кернс-Сейр; Kearns-Sayre-Syndrom; Hội chứng Kearns–Sayre; سندرم کرنس-سه‌یر; Kearns-Sayre sendromu; Zespół Kearnsa-Sayre'a; תסמונת קרנס-סייר; Syndroma Kearns-Sayre; síndrome de Kearns-Sayre; Kearns Sayre-syndroom; Kerns–Seyr sindromu; Síndrome de Kearns-Sayre; Kearns-Sayre syndrome; متلازمة كيرنز ساير; George Pomeroy Sayre; Кернс-Сейр синдромы; malattia genetica che si trasmette tramite il DNA mitocondriale; maladie neuromusculaire (myopathie, ophtalmoplégie), due à des délétions de l'ADN mitochondrial; Krankheit; malaltia mitocondrial; spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age; مرض يصيب الإنسان; хвороба; enfermedad neuromuscular (myopatia, oftalmoplejia), producida por deleciones del ADN mitocondrial; Kearns-Sayre syndrome (disorder); Cpeo With Myopathy; KSS; Mitochondrial Cytopathy; Cpeo With Ragged-Red Fibers; Ophthalmoplegia, Progressive External, With Ragged-Red Fibers; Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy; KEARNS-SAYRE SYNDROME; KSS; KEARNS-SAYRE SYNDROME; Ophthalmoplegia plus syndrome; Oculocraniosomatic Syndrome; Ophthalmoplegia, progressive external, with ragged red fibers; CPEO with ragged red fibers; Ophthalmoplegia-Plus Syndrome; Chronic Progressive External Ophthalmoplegia With Myopathy; Sindrome de Kearns-Sayre</nowiki>
Kearns-Sayre syndrome 
spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age
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Instance of
  • head and neck disease
  • developmental defect during embryogenesis
  • class of disease
  • symptom or sign
Subclass of
  • chronic progressive external ophthalmoplegia
  • syndrome with hypoparathyroidism
  • neurometabolic disease
  • syndromic genetic deafness
  • mitochondrial disease with eye involvement
  • syndrome with a symptomatic strabismus
  • syndromic retinitis pigmentosa
  • mitochondrial disease with dilated cardiomyopathy
  • hereditary retinal dystrophy
  • mitochondrial disease with epilepsy
  • mitochondrial disease with peripheral neuropathy
  • mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Named after
  • Thomas P. Kearns
  • George Pomeroy Sayre
Authority file
Wikidata Q2605012
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Media in category "Kearns-Sayre syndrome"

The following 7 files are in this category, out of 7 total.

  • 2010 Нарушение работы сосудистого сплетения при синдроме Кернса-Сейра.pdf 1,239 × 1,752, 5 pages; 999 KB
  • 2014 Quijada-Fraile et al -- Фолиниевая кислота при синдроме Кернса-Сейра.pdf 1,239 × 1,752, 15 pages; 1.46 MB
  • Concentrations of 5MTHF and total folate in serum and CSF samples in the patient with Kearns-Sayre syndrome (KSS) and the patient homozygous for MTHFR C677T polymorphism.png 2,128 × 878; 149 KB
  • Figure 1 from Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome (2014).jpg 779 × 253; 53 KB
  • Figure 2 - Western Blot of missing FRa in boy with POLG mutation and CFD.png 429 × 527; 35 KB
  • Folic acid inhibits 5MTHF transport - 2022 report of two cases by Akiyama et al RUS.pdf 1,239 × 1,752, 10 pages; 1.35 MB
  • Kearns–Sayre syndrome.webp 685 × 843; 40 KB
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