Cerebro-hepato-renal syndrome with parental consanguinity / S. VARIEND in Developmental Medicine & Child Neurology, 18-5 (October 1976)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 18-5 (October 1976) . - p.660-665 Titre : Cerebro-hepato-renal syndrome with parental consanguinity Type de document : Texte imprimé et/ou numérique Auteurs : S. VARIEND, Auteur ; W. R. TIMPERLEY, Auteur ; L. S. TAITZ, Auteur ; Susanna S. HILL, Auteur Année de publication : 1976 Article en page(s) : p.660-665 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this case would further support an autosomal recessive mode of inheritance. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=464 [article] Cerebro-hepato-renal syndrome with parental consanguinity [Texte imprimé et/ou numérique] / S. VARIEND, Auteur ; W. R. TIMPERLEY, Auteur ; L. S. TAITZ, Auteur ; Susanna S. HILL, Auteur . - 1976 . - p.660-665. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 18-5 (October 1976) . - p.660-665 Index. décimale : PER Périodiques Résumé : A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this case would further support an autosomal recessive mode of inheritance. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=464

Encephalomyelitis in two sisters who died suddenly at home / A. J. HOWAT in Developmental Medicine & Child Neurology, 29-4 (August 1987)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 29-4 (August 1987) . - p.529-532 Titre : Encephalomyelitis in two sisters who died suddenly at home Type de document : Texte imprimé et/ou numérique Auteurs : A. J. HOWAT, Auteur ; S. VARIEND, Auteur ; C. M. L. SMITH, Auteur Année de publication : 1987 Article en page(s) : p.529-532 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Two sudden infant deaths of female siblings occurring at the ages of six and 5 1/2 months are reported. The temporal separation of their deaths was 14 months. Both showed virtually identical pathological findings within the central nervous system, consistent with encephalomyelitis. No causative agent, metabolic defect or common predisposing factor was identified and no evidence of a relationship to immunisation could be established. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=627 [article] Encephalomyelitis in two sisters who died suddenly at home [Texte imprimé et/ou numérique] / A. J. HOWAT, Auteur ; S. VARIEND, Auteur ; C. M. L. SMITH, Auteur . - 1987 . - p.529-532. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 29-4 (August 1987) . - p.529-532 Index. décimale : PER Périodiques Résumé : Two sudden infant deaths of female siblings occurring at the ages of six and 5 1/2 months are reported. The temporal separation of their deaths was 14 months. Both showed virtually identical pathological findings within the central nervous system, consistent with encephalomyelitis. No causative agent, metabolic defect or common predisposing factor was identified and no evidence of a relationship to immunisation could be established. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=627

The weight of the cerebellum in children with myelomeningocele / S. VARIEND in Developmental Medicine & Child Neurology, S29 (1973)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > S29 (1973) . - p.77-83 Titre : The weight of the cerebellum in children with myelomeningocele Type de document : Texte imprimé et/ou numérique Auteurs : S. VARIEND, Auteur ; John L. EMERY, Auteur Année de publication : 1973 Article en page(s) : p.77-83 Langues : Anglais (eng) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432 [article] The weight of the cerebellum in children with myelomeningocele [Texte imprimé et/ou numérique] / S. VARIEND, Auteur ; John L. EMERY, Auteur . - 1973 . - p.77-83. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > S29 (1973) . - p.77-83 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=432

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