Literature DB >> 13457946

Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.

T SJOGREN, T LARSSON.   

Abstract

Entities:  

Keywords:  CEREBRAL PALSY/case reports; ICHTHYOSIS/in infant and child; MENTAL DEFICIENCY/case reports

Mesh：

Year:  1957        PMID： 13457946

Source DB:  PubMed          Journal:  Acta Psychiatr Neurol Scand Suppl        ISSN： 0365-5067


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  60 in total

1.  Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.

Authors:  L Ijlst; W Oostheim; M van Werkhoven; M A Willemsen; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

Review 2.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

3.  [ON A FAMILIAL DISEASE WITH AN UNUSUAL NEUROLOGIC SYMPTOM COMBINATION, OLIGOPHRENIA, DEMENTIA, MULTIPLE SKIN ULCERATIONS, SPLENOMEGALY AND AMINO ACID METABOLIC DISORDERS].

Authors:  J BRUCK; F GERSTENBRAND; P PROSENZ; R SANTLER; B SCHOBEL; F WEWALKA
Journal:  Dtsch Z Nervenheilkd       Date:  1964-02-21

Review 4.  [Skin and teeth].

Authors:  J Heinlin; N Heinlin; J Steinbauer; M Landthaler; S Karrer
Journal:  Hautarzt       Date:  2009-07       Impact factor: 0.751

5.  Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses.

Authors:  B D Lake; V V Smith; M R Judge; J I Harper; G T Besley
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 6.  Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts.

Authors:  B T Poll-The; T Billette de Villemeur; M Abitbol; J L Dufier; J M Saudubray
Journal:  Eur J Pediatr       Date:  1992-01       Impact factor: 3.183

7.  Large contiguous gene deletions in Sjögren-Larsson syndrome.

Authors:  Holly Engelstad; Gael Carney; Dana S'aulis; Janae Rise; Warren G Sanger; M Katharine Rudd; Gabriele Richard; Christopher W Carr; Omar A Abdul-Rahman; William B Rizzo
Journal:  Mol Genet Metab       Date:  2011-05-30       Impact factor: 4.797

8.  Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

Authors:  M Lacour; H R Middleton-Price; J I Harper
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

9.  Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Authors:  Kathleen Davis; Kenton R Holden; Dana S'Aulis; Claudia Amador; M Gisele Matheus; William B Rizzo
Journal:  J Child Neurol       Date:  2012-10-03       Impact factor: 1.987

10.  Strumpell's pure familial spastic paraplegia: case study and review of the literature.

Authors:  G L Holmes; B A Shaywitz
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-10       Impact factor: 10.154
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