The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience (Q24806852)

1

0 references

Athanasios E Evangeliou

2

0 references

Miltiadis Tsilimbaris

3

0 references

Martha G Spilioti

4

0 references

Eleni P Mihailidou

5

0 references

Christos Lionis

6

0 references

Ioannis Pallikaris

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

7

0 references

language of work or name

English

0 references

publication date

11 April 2002

0 references

published in

BMC Ophthalmology

0 references

volume

2

0 references

issue

1

0 references

page(s)

2

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

Ocular manifestations of metabolic disorders.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

Cataract and metabolic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

Kearns-Sayre syndrome: a case report and review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

Pathogenesis of cataracts in patients with Lowe's syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

Retinal pathology in the Kearns-Sayre syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

Clinical spectrum of Niemann-Pick disease type C.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

Type C Niemann-Pick disease: supranuclear ophthalmoplegia associated with deficient biosynthesis of cholesterol esters

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

First-trimester diagnosis of an unusual case of alpha-mannosidosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

25 years Austrian screening program for inborn errors of metabolism at the Vienna University

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=107746

Ophthalmologic findings in biotinidase deficiency

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

Clinical, neurophysiological, biochemical and morphological features of eyes in Persian cats with mannosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

MR findings in mannosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

[The Lyon effect of the lens: findings in the carriers of X chromosome-linked cataract and in Lowe syndrome]

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

Ocular aspects in biotinidase deficiency. Clinical and genetic original studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

Ocular changes of glycogen storage disease type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-2-2

Pathological Features of the Eye in the Oculocerebrorenal (Lowe) Syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11950394

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inborn errors of metabolic diseases in Malaysia: a preliminary report of maple syrup urine diseases for 1993

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11950394