(Q39861268)

15 September 2017

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404231

29 June 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404231

29 June 2022

author name string

Y. Suzuki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404231

29 June 2022

N. Nakamura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404231

29 June 2022

K. Fukuoka

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404231

29 June 2022

Y. Shimada

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404231

29 June 2022

M. Uono

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A404231

29 June 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=404231

29 June 2022

publication date

1 April 1977

1 reference

15 September 2017

15 April 1977

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=404231

29 June 2022

1 reference

15 September 2017

volume

36

1 reference

15 September 2017

issue

2

1 reference

15 September 2017

page(s)

219-229

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00273261

15 September 2017

exact match

0 references

cites work

Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00273261

β-Galactosidase in mucopolysaccharidoses and mucolipidoses. deficiency of GM1 β-galactosidase in liver and leukocytes

21 January 2018

1 reference

12 December 2020

Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

1 reference

12 December 2020

An autopsy case of a late form of familial amaurotic idiocy in comparison to the clinical and pathological findings on the two siblings with the same disease

1 reference

12 December 2020

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase

1 reference

12 December 2020

Mycolonus epilepsy with cherry-red spot in adult: a peculiar form of mucopolysaccharidosis. (A clinical genetic, chemical and ultrastructural study)

1 reference

12 December 2020

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT"

1 reference

12 December 2020

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

1 reference

12 December 2020

Macular cherry-red spot, myoclonic epilepsy, and neurovisceral storage in a 17-year-old girl.

1 reference

12 December 2020

Gmi-gangliosidosis. A variant with high activity of hepatic neutral beta-galactosidase

1 reference

12 December 2020

Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?

1 reference

12 December 2020

Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

1 reference

12 December 2020

Generalized gangliosidosis: beta-galactosidase deficiency.

1 reference

12 December 2020

Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies

1 reference

12 December 2020

A new type of mucolipidosis associated with hereditary thrombocytopathy and color blindness

1 reference

12 December 2020

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

beta-Galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM1-gangliosidosis

1 reference

12 December 2020

A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria

1 reference

12 December 2020

Familial juvenile neuronal storage disease. Cherry red spots and dyssynergia cerebellaris myoclonica without dementia type (author's transl)

1 reference

12 December 2020

The use of white cells as a source of diagnostic material for lipid storage diseases

1 reference

12 December 2020

The genetic mucolipidoses. Diagnosis and differential diagnosis

1 reference

12 December 2020

Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver

1 reference

12 December 2020

Cherry red spots and progressive myoclonus without dermentia: a distinct syndrome with neuronal storage

1 reference

12 December 2020

Letter: Beta-galactosidase deficiency in young adults.

1 reference

12 December 2020

Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency

1 reference

12 December 2020

[2 siblings with mucolipidosis]

1 reference

12 December 2020

Mucopolysaccharidosis: secondarily induced abnormal distribution of lysosomal isoenzymes

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00273261

1 reference

15 September 2017

1 reference