(Q71045049)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

title

Family exhibiting cerebellar-like ataxia, photosensitivity and shortness of stature - a new inborn error of tryptophan metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

author name string

Fenton DA

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

Wilkinson JD

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

Toseland PA

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

language of work or name

English

0 references

publication date

1 September 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Royal Society of Medicine

15 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

volume

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

page(s)

736-739

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

The syndrome of congenital telangiectaticerythema and stunted growth

15 October 2019

cites work

1 reference

12 December 2020

Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features

1 reference

12 December 2020

Poikiloderma congenitale; Rothmund-Thomson syndrome

1 reference

12 December 2020

CONGENITAL TRYPTOPHANURIA WITH DWARFISM ("H" DISEASE-LIKE CLINICAL FEATURES WITHOUT INDICANURIA AND GENERALIZED AMINOACIDURIA):--A PROBABLY NEW INBORN ERROR OF TRYPTOPHAN METABOLISM

1 reference

12 December 2020

10.1177/014107688307600906

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6620277%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

PubMed publication ID

6620277

1 reference