(Q43756725)

26 November 2017

title

Central nervous system and renal investigations in patients with Lowe syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1576608

10 October 2022

author name string

S. M. Pueschel

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1576608

10 October 2022

A. S. Brem

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1576608

10 October 2022

P. Nittoli

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1576608

10 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1576608

10 October 2022

publication date

1 February 1992

1 reference

26 November 2017

published in

Child's Nervous System

1 reference

26 November 2017

volume

8

1 reference

26 November 2017

issue

1

1 reference

26 November 2017

page(s)

45-48

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00316562

26 November 2017

exact match

0 references

cites work

Arthropathy of Lowe's (oculocerebrorenal) syndrome

1 reference

12 December 2020

Central nervous system lesions in disorders of amino-acid metabolism. A neuropathological study.

1 reference

12 December 2020

Oculocerebrorenal syndrome: case report with CT and MR correlates

1 reference

12 December 2020

A Defect in Intestinal Amino Acid Transport in Lowe's Syndrome

1 reference

12 December 2020

MRI findings and peripheral neuropathy in Lowe's syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome

1 reference

12 December 2020

Mitochondrial defects in Lowe's oculocerebrorenal syndrome

1 reference

12 December 2020

Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms

1 reference

12 December 2020

Urinary acid glycosaminoglycans in a patient with oculo-cerebro-renal syndrome

1 reference

12 December 2020

The Lowe syndrome. Observations on the amino acid metabolism in a 2-year-old affected boy

1 reference

12 December 2020

Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis

1 reference

12 December 2020

Low sulfated glycosaminoglycans are excreted in patients with the Lowe syndrome

1 reference

12 December 2020

Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment

1 reference

12 December 2020

Tenosynovitis in Lowe syndrome

1 reference

12 December 2020

[Excretion of acid mucopolysaccharides in a child with Lowe's syndrome]

1 reference

12 December 2020

METABOLISM OF ORNITHINE AND OTHER AMINO ACIDS IN THE CEREBRO-OCULO-RENAL SYNDROME.

1 reference

12 December 2020

Oculo-cerebro-renal syndrome: failure to demonstrate specific neuropathological abnormalities in four cases

1 reference

12 December 2020

Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome.

1 reference

12 December 2020

Development of arthritis in Lowe's syndrome

1 reference

12 December 2020

[Anatomical verifications in a child with Lowe's syndrome.]

1 reference

12 December 2020

Ultrastructural, neurological, and glycosaminoglycan abnormalities in lowe's syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00316562

1 reference

Dimensions Publication ID

26 November 2017

1019518305

0 references

1 reference