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European Journal of Medical Genetics, ISSN 1769-7212, 2019
Background: Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental delay, microcephaly, severe growth... 
Hypertension | Cockayne syndrome | Hyperuricemia | Nephrotic syndrome | Proteinuria
Journal Article
Journal Article
Archives of Disease in Childhood, ISSN 0022-2593, 05/1980, Volume 55, Issue 5, p. 329
The effect of iron on the attachment of gonococci to human spermatozoa was investigated using the three iron salts, ferric chloride, ferric nitrate, and... 
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2018, Volume 60, Issue 12, pp. 1256 - 1263
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 428 - 440
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 05/2019, Volume 23, Issue 3, pp. 448 - 455
Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed... 
Ataxia | ATP1A3 | Child | Movement disorder | ALTERNATING HEMIPLEGIA | PHENOTYPE | DISORDERS | WEAKNESS | CHILDHOOD | CLINICAL NEUROLOGY | DE-NOVO MUTATIONS | CAPOS | PEDIATRICS | Moverrient disorder | Parkinson's disease | Cerebellar ataxia | Encephalopathy | Paralysis | Hyperthermia | Pediatric neurology | Fever | Index Medicus
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2014, Volume 45, Issue 5, pp. 336 - 340
Abstract Rasmussen encephalitis (RE) is a severe epileptic and inflammatory encephalopathy of unknown etiology, responsible for focal neurological signs and... 
Short Communication | immunosuppressive therapy | autoimmunity | epilepsia partialis continua | Rasmussen encephalitis | child | ANTIBODIES | ENCEPHALOPATHY | DIAGNOSIS | LIMBIC ENCEPHALITIS | PEDIATRICS | CLINICAL NEUROLOGY
Journal Article
Neuropediatrics, 10/2014, Volume 45, Issue 5, p. 336
Rasmussen encephalitis (RE) is a severe epileptic and inflammatory encephalopathy of unknown etiology, responsible for focal neurological signs and cognitive... 
Magnetic Resonance Imaging | Encephalitis - diagnosis | Autoantibodies - blood | Brain - physiopathology | Humans | Brain - pathology | Child, Preschool | Female | Electroencephalography | Potassium Channels, Voltage-Gated - immunology | Encephalitis - blood
Journal Article
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