(Q73014599)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

cerebrotendinous xanthomatosis

1 reference

based on heuristic

inferred from title

parkinsonian syndrome

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

author name string

M T Dotti

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

R Garuti

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

S Calandra

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

publication date

1 September 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

1017-1019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

Muscle mitochondrial changes in cerebrotendinous xanthomatosis

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

Molecular cloning of cDNA for vitamin D3 25-hydroxylase from rat liver mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8257%28200009%2915%3A5%3C1017%3A%3AAID-MDS1043%3E3.0.CO%3B2-F

10.1002/1531-8257(200009)15:5<1017::AID-MDS1043>3.0.CO;2-F

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11009219%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference