CONGENITAL CATARACTS, RENAL TUBULAR NECROSIS AND ENCEPHALOPATHY IN TWO SISTERS (Q36060358)

11 August 2017

CONGENITAL CATARACTS, RENAL TUBULAR NECROSIS AND ENCEPHALOPATHY IN TWO SISTERS (English)

1 reference

11 August 2017

CROME L

1

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11 August 2017

DUCKETT S

series ordinal

2

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11 August 2017

FRANKLIN AW

series ordinal

3

1 reference

11 August 2017

language of work or name

English

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publication date

1 October 1963

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Archives of Disease in Childhood

11 August 2017

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11 August 2017

38

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11 August 2017

505-515

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

Two children with the oculo-cerebrorenal syndrome of Lowe, Terrey and MacLachlan

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disea

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

Hereditary renal disease associated with nerve deafness and ocular lesions.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

Hyperamino-aciduria in Lignac-Fanconi disease, in galactosaemia and in an obscure syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2019107

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

23 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

[Clinical, genetic & biological study of the Lowe-Bickel syndrome]

1 reference

12 December 2020

[Lowe syndrome, study of tubular function]

1 reference

12 December 2020

[Rare syndrome: hereditary ataxia with congenital cataract and mental retardation]

1 reference

12 December 2020

[Congenital glaucoma and nephropathy]

1 reference

12 December 2020

[The Marinesco-Sjoegren syndrome, Review of the literature, 3 personal observations concerning 3 sisters.]

1 reference

12 December 2020

[Cataract and oligophrenia]

1 reference

12 December 2020

"Lowe's syndrome". Abnormalities in renal tubular function in combination with other congenital defect

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12 December 2020

Identifiers

DOI

10.1136/ADC.38.201.505

1 reference

11 August 2017

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11 August 2017

PubMed publication ID

14065995

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