(Q82365052)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16435194%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Cumulative incidence rates of the mucopolysaccharidoses in Germany (English)

1 reference

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16 January 2020

1 reference

7

1 reference

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16 January 2020

author name string

F Baehner

1

1 reference

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16 January 2020

C Schmiedeskamp

2

1 reference

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16 January 2020

F Krummenauer

3

1 reference

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16 January 2020

E Miebach

4

1 reference

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16 January 2020

M Bajbouj

5

1 reference

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16 January 2020

C Whybra

6

1 reference

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16 January 2020

C Kampmann

8

1 reference

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16 January 2020

M Beck

9

1 reference

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16 January 2020

publication date

1 January 2005

1 reference

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Journal of Inherited Metabolic Disease

16 January 2020

published in

1 reference

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16 January 2020

volume

28

1 reference

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16 January 2020

issue

6

1 reference

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16 January 2020

page(s)

1011-1017

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https://scigraph.springernature.com/pub.10.1007/s10545-005-0112-z

16 January 2020

exact match

0 references

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Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene

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Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

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Relative Frequency of the Hurler and Hunter Syndromes

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12 December 2020

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12 December 2020

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12 December 2020

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

1 reference

12 December 2020

Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

1 reference

12 December 2020

Prevalence of lysosomal storage disorders

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12 December 2020

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12 December 2020

Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"?

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12 December 2020

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

1 reference

12 December 2020

Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism

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12 December 2020

Incidence of the mucopolysaccharidoses in Northern Ireland

1 reference

12 December 2020

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

1 reference

12 December 2020

Lysosomal storage diseases in Greece

1 reference

12 December 2020