Literature DB >> 14065995

CONGENITAL CATARACTS, RENAL TUBULAR NECROSIS AND ENCEPHALOPATHY IN TWO SISTERS.

L CROME, S DUCKETT, A W FRANKLIN.   

Abstract

Entities:  

Keywords:  BRAIN DISEASES; CATARACT; EPILEPSY; GENETICS, HUMAN; INFANT; KIDNEY FAILURE, ACUTE; MENTAL RETARDATION; PATHOLOGY

Mesh：

Year:  1963        PMID： 14065995      PMCID： PMC2019107          DOI： 10.1136/adc.38.201.505

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  21 in total

1.  A combination of congenital cataract and cerebral palsy in a brother and a sister.

Authors:  J BLUMEL; E B EVANS; G W EGGERS
Journal:  Arch Ophthalmol       Date:  1960-02

2.  [Heredo ataxia, cataract and oligophrenia (Marinesco-Sjögren syndrome)].

Authors:  J B Dureux; J Cordier; P Ziza; P Tridon
Journal:  Rev Neurol (Paris)       Date:  1958-06       Impact factor: 2.607

3.  Oligophrenia, cerebellar ataxia and cataract; the syndrome of Marinesco-Garland.

Authors:  R C MACGILLIVRAY
Journal:  Am J Ment Defic       Date:  1957-04

4.  [Congenital tubular insufficiency with mental retardation, cataract and glaucoma (Lowe's syndrome)].

Authors:  R DEBRE; P ROYER; H LESTRADET; W STRAUB
Journal:  Arch Fr Pediatr       Date:  1955

5.  A heredo-familial syndrome characterized by renal disease, inner ear deafness, and ocular changes.

Authors:  E SOHAR
Journal:  Harefuah       Date:  1954-10-15

6.  An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features.

Authors:  H GARLAND; D MOORHOUSE
Journal:  J Neurol Neurosurg Psychiatry       Date:  1953-05       Impact factor: 10.154

7.  The Marinesco-Sjogren-Garland syndrome. A report of two cases.

Authors:  I POILICI; I PETROVICI; C MARINCHESCU
Journal:  Psychiatr Neurol (Basel)       Date:  1961

8.  Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

Authors:  C U LOWE; M TERREY; E A MacLACHLAN
Journal:  AMA Am J Dis Child       Date:  1952-02

9.  Cataracts, ataxia and mental deficiency: a report of 2 cases.

Authors:  B W RICHARDS
Journal:  J Ment Sci       Date:  1950-04

10.  Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.

Authors:  T SJOGREN
Journal:  Confin Neurol       Date:  1950
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  3 in total

1.  Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

Authors:  R C Hennekam; A G van de Meeberg; J M van Doorne; P F Dijkstra; J B Bijlsma
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

2.  Genetical aspects of severe visual impairment in childhood.

Authors:  G R Fraser
Journal:  J Med Genet       Date:  1970-09       Impact factor: 6.318

3.  Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.

Authors:  P A Bhaskar; K Jagannathan; K Valmikinathan
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-12       Impact factor: 10.154
  3 in total

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