Category:Cerebral folate deficiency

Media in category "Cerebral folate deficiency"

The following 52 files are in this category, out of 52 total.

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  2014 Quijada-Fraile et al -- Фолиниевая кислота при синдроме Кернса-Сейра.pdf 1,239 × 1,752, 15 pages; 1.46 MB
  
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  2020 First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient RUS.pdf 1,239 × 1,752, 8 pages; 1.11 MB
  
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  2020 Pharmacoresistant Epilepsy in Childhood Think of the Cerebral Folate Deficiency a Treatable Disease RUS.pdf 1,239 × 1,752, 13 pages; 1.79 MB
  
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  2021 Papadopoulou et al - cerebral folate deficiency in Greek siblings - Figure 1.jpg 1,988 × 1,976; 260 KB
  
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  2021 Papadopoulou et al - cerebral folate deficiency in Greek siblings - Figure 2.jpg 2,128 × 2,425; 749 KB
  
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  2021 Papadopoulou et al - церебральная фолатная недостаточность у двух греческих сиблингов - описание случая.pdf 1,239 × 1,752, 12 pages; 1.35 MB
  
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  2021 Церебральная Фолатная Недостаточность Систематический Обзор и Мета Анализ by Frye and Rossignol.pdf 1,239 × 1,752, 36 pages; 2.5 MB
  
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  2023 Brain MRI series of Serbian boy with Cerebral Folate Deficiency aged 2 to 12 years.png 1,770 × 2,224; 2.98 MB
  
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  2023 Brain MRI series of Serbian girl with Cerebral Folate Deficiency aged 2 to 6 years.png 1,594 × 2,452; 2.76 MB
  
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  2023 EN-RUS TRANSL Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1.pdf 1,239 × 1,752, 21 pages; 1.91 MB
  
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  Age-dependent classification of cerebral folate deficiency syndromes - from Ramaekers and Quadros 2022 - RUS.png 1,663 × 918; 154 KB
  
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  Brainsci-10-00762-g004-550.png 444 × 550; 241 KB
  
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  Cerebral Folate Deficiency - Brain MRI performed at 4 and 12 years old.png 3,031 × 3,854; 1.95 MB
  
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  Cerebral Folate Deficiency - Cerebral CT-scan at 4 years old.png 2,986 × 1,556; 644 KB
  
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  Cerebral Folate Deficiency 2022 Review by Ramaekers and Quardors in RUS translation.pdf 1,239 × 1,752, 23 pages; 2.04 MB
  
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  Comparison of CSF methyl-folate levels and FRa autoantibodies in infantile CFD, autism with neurologic deficits (Autism + ND), infantile autism and healthy controls - RUS.png 1,587 × 899; 175 KB
  
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  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
  
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  Diagnostic alghorythm for infantile CFD and autistic syndromes - Ramaekers and Quadros 2022 - RUS.png 1,747 × 917; 249 KB
  
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  Dilated lateral ventricles in 4 yo boy with cerebral folate deficiency - Figure 1 from Almahmoud et al 2023.jpg 1,016 × 1,109; 104 KB
  
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  Dilated ventricles in 5 yo girl with cerebral folate deficiency - Figure 2 from Almahmoud et al 2023.jpg 1,028 × 942; 132 KB
  
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  Enhanced Brain MRI of a 6 years 11 months old male patient with CFD.png 1,418 × 850; 509 KB
  
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  Fig 1 - Treatment of refractory depression with folinic acid - Lisa Pan 2022 - RUS.png 1,654 × 1,857; 394 KB
  
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  Figure 01 - KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.jpg 761 × 399; 136 KB
  
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  Figure 01 Effects of folate deficiency on the fetus and on brain development RUS.png 3,501 × 3,242; 978 KB
  
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  Figure 02 Folate receptor concentrations in milk RUS.png 2,812 × 2,172; 339 KB
  
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  Figure 02 from KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.jpg 711 × 670; 162 KB
  
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  Figure 03 Effects of folinic acid in autism RUS.png 3,547 × 5,460; 940 KB
  
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  Figure 03 from KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.jpg 772 × 945; 79 KB
  
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  Figure 04 from KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.jpg 713 × 569; 69 KB
  
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  Figure 04 The significance of parental folate antibody status on developmental outcomes RUS.png 3,261 × 4,081; 1.17 MB
  
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  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
  
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  Figure 1 from Systematic Review and Meta-Analysis on CFD and Leukovorin Treatment in Autism.png 3,942 × 2,383; 678 KB
  
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  Figure 2 - Western Blot of missing FRa in boy with POLG mutation and CFD.png 429 × 527; 35 KB
  
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  Figure 6 - Three families with autism and FRa antibodies - by Ramaekers and Quadros 2022 - RUS.png 1,200 × 1,283; 567 KB
  
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  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
  
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  Folic acid metabolism and 5-MTHF transport across the choroid plexus epithelium in the brain.png 3,721 × 1,266; 2.72 MB
  
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  Folic acid metabolism and 5-MTHF transport RUS.png 3,721 × 1,266; 3.43 MB
  
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  Hypsarrhythmia-like EEG pattern in a patient with cerebral folate deficiency.png 2,060 × 1,443; 1.53 MB
  
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  Lollipop graph with c524G - T (pC175F) mutation of FOLR1 gene.jpg 778 × 129; 19 KB
  
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  Metabolomic abnormalities in refractory depression - 2022 Lisa Pan - RUR.pdf 1,239 × 1,752, 18 pages; 1.54 MB
  
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  Missense variant of c524G -T (pC175F) in FOLR1 gene by WES and Sanger.jpg 778 × 290; 52 KB
  
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  MRI of Cerebral Folate Deficiency in 12 yo girl with Dihydropyridine Reductase Deficiency - after treatment.jpg 800 × 216; 32 KB
  
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  MRI of Cerebral Folate Deficiency in 12 yo girl with Dihydropyridine Reductase Deficiency - before treatment horizontal version.jpg 1,177 × 335; 91 KB
  
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  MRI of Cerebral Folate Deficiency in 12 yo girl with Dihydropyridine Reductase Deficiency - before treatment.jpg 800 × 682; 61 KB
  
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  Pathways of folate metabolism after FRα mediated entry of 5MTHF into the brain - from Ramaekers and Quadros - RUS.jpg 1,600 × 1,207; 463 KB
  
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  Rigure 1 - MRI of 10 yo boy with POLG mutation and CFD.png 434 × 263; 101 KB
  
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  Transport of folate compounds from the intestine to the brain and competitive inhibition of 5-MTHF transport by folic acid.png 2,128 × 875; 176 KB
  
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  Transport of folate from intestine to the brain and inhibition of 5MTHF transport by folic acid RUS.jpg 2,128 × 875; 274 KB
  
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  Аутоантитела к фолатному рецептору альфа при расстройствах аутистического спектра - диагностика, терапия и профилактика.pdf 1,239 × 1,752, 22 pages; 2.1 MB
  
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  Ген KDM6B и Церебральная Фолатная Недостаточность - Han et al 2023.pdf 1,239 × 1,752, 17 pages; 1.69 MB
  
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  Заболевание с чертами синдрома Альперса и МНГИЭ, нарушением переноса фолатов в СМЖ, и необычной мутацией гена POLG.pdf 1,239 × 1,752, 15 pages; 1.3 MB
  
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  ЦФН у 12-летней пациентки с недостаточностью ДГПР из за прекращения фолиновой кислоты.pdf 1,239 × 1,752, 8 pages; 1.18 MB