(Q72290209)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

main subject

mucopolysaccharidosis I

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Charles Phillip Morris

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Doug A Brooks

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1

J J Hopwood

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author name string

A Vellodi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

T Litjens

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

P R Clements

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

A Cooper

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

J E Wraith

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

publication date

1 January 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

25 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

1024-1033

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00711520

25 October 2019

exact match

0 references

cites work

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

1 reference

12 December 2020

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

1 reference

12 December 2020

Psychomotor development of children with mucopolysaccharidosis type 1-H following bone marrow transplantation

1 reference

12 December 2020

Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients

1 reference

12 December 2020

Amelioration of clinical disease following bone marrow transplantation in fucosidase-deficient dogs.

1 reference

12 December 2020

The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.

1 reference

12 December 2020

Structure and sequence of the human alpha-L-iduronidase gene

1 reference

12 December 2020

High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

1 reference

12 December 2020

Diagnostic enzymology of alpha-L-iduronidase with special reference to a sulphated disaccharide derived from heparin

1 reference

12 December 2020

Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation

1 reference

12 December 2020

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

12 December 2020

Bone marrow transplantation for Hurler syndrome: assessment of metabolic correction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711520

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127052%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference