(Q39612743)

reason for preferred rank

13 September 2017

title

Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities (English)

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

22 November 2022

Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A98248

22 November 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

22 November 2022

author name string

G. Andria

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A98248

22 November 2022

E. Del Giudice

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A98248

22 November 2022

A. J. Reuser

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A98248

22 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=98248

22 November 2022

publication date

1 July 1978

1 reference

full work available at URL

13 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1978.tb02055.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1978.tb02055.x/fullpdf

22 November 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

22 November 2022

1 reference

13 September 2017

volume

14

1 reference

13 September 2017

issue

1

1 reference

13 September 2017

page(s)

16-23

1 reference

Variation in the phenotypic expression of beta-glucuronidase deficiency

13 September 2017

cites work

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Human alpha-fucosidase. Purification and properties

22 November 2022

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Pericellular glycosaminoglycans in cultured human cells. A possible source of error in prenatal diagnosis of Mucopolysaccharidoses

22 November 2022

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide

22 November 2022

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Genetic heterogeneity in GM1-gangliosidosis

22 November 2022

6

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

22 November 2022

10

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency

22 November 2022

12

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Juvenile GM1 gangliosidosis. Occurrence with absence of two beta-galactosidase components

22 November 2022

13

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Protein measurement with the Folin phenol reagent

22 November 2022

14

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

22 November 2022

16

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency

22 November 2022

17

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Generalized gangliosidosis: beta-galactosidase deficiency.

22 November 2022

18

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria

22 November 2022

19

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

A two-year-old patient with an atypical expression of GM1-β-galactosidase deficiency: Biochemical, immunological, and cell genetic studies

22 November 2022

21

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature

22 November 2022

23

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

Letter: Beta-galactosidase deficiency in young adults.

22 November 2022

24

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB02055.X

22 November 2022

Identifiers

0 references

1 reference