Literature DB >> 4448995

Sjögren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia.

M Maia.   

Abstract

Two sibs are described with Sjögren-Larsson syndrome. Another sib died in early life with signs which appear to be indicative of the same condition. In the two cases studied we have documented signs of peripheral nerve involvement (not previously reported in the literature) which point towards a pathological process acting on ectodermal structures to a greater extent than has previously been considered.

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Year:  1974        PMID: 4448995      PMCID: PMC1083644          DOI: 10.1136/jnnp.37.12.1306

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  15 in total

1.  Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia.

Authors:  J BLUMEL; M WATKINS; G W EGGERS
Journal:  AMA J Dis Child       Date:  1958-12

2.  A new genetically determined plasma-protein in man.

Authors:  G R FRASER; H HARRIS; E B ROBSON
Journal:  Lancet       Date:  1959-05-16       Impact factor: 79.321

3.  Mental deficiency, spasticity, and congenital ichthyosis; report of a case.

Authors:  J K LINK; E C ROLDAN
Journal:  J Pediatr       Date:  1958-06       Impact factor: 4.406

4.  Pathological findings in Sjögren-Larsson syndrome.

Authors:  P E Sylvester
Journal:  J Ment Defic Res       Date:  1969-12

5.  Inherited ichthyoses.

Authors:  U W Schnyder
Journal:  Arch Dermatol       Date:  1970-09

6.  Eight types of bisalbuminaemia.

Authors:  A L Tárnoky; B Dowding; A L Lakin
Journal:  Nature       Date:  1970-02-21       Impact factor: 49.962

7.  A new bisalbuminaemic family.

Authors:  G Sandor; L Martin; M Porsin; A Rousseau; R Martin
Journal:  Nature       Date:  1965-12-18       Impact factor: 49.962

8.  The Sjögren-Larsson syndrome.

Authors:  V J Selmanowitz; M J Porter
Journal:  Am J Med       Date:  1967-03       Impact factor: 4.965

9.  An electrophoretic comparison of serum albumin variants from nineteen unrelated families.

Authors:  L R Weitkamp; D C Shreffler; J L Robbins; O Drachmann; P L Adner; R J Wieme; N M Simon; K B Cooke; G Sandor; F Wuhrmann; M Braend; A L Tárnoky
Journal:  Acta Genet Stat Med       Date:  1967

10.  Sjögren-larsson syndrome. Congenital ichthyosis, spastic paralysis, and oligophrenia.

Authors:  A Heijer; W B Reed
Journal:  Arch Dermatol       Date:  1965-11
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  1 in total

1.  Cranial CT in the Sjögren-Larsson syndrome.

Authors:  F P Probst; S Jagell; J Heijbel
Journal:  Neuroradiology       Date:  1981-03       Impact factor: 2.804

  1 in total

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