(Q68456267)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

title

The genetic mucolipidoses. Diagnosis and differential diagnosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

author name string

J W Spranger

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

H R Wiedemann

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

publication date

1 January 1970

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

page(s)

113-139

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

Mannosidosis: A clinical and histopathologic study

24 September 2019

cites work

1 reference

12 December 2020

[Metabolic encephalopathy associating mucopolysaccharidosis and sulfatidosis]

1 reference

12 December 2020

The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

1 reference

12 December 2020

Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

1 reference

12 December 2020

The Gm1 gangliosidosis (Landing disease).

1 reference

12 December 2020

Clinical definition of the Hurler-Hunter phenotypes. A review of 50 patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial neurovisceral lipidosis

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

Observation of a case of GM1 gangliosidosis

1 reference

12 December 2020

Generalized, Norman-Landing type, GM1 gangliosidosis: study of a case diagnosed during the life of the patient

1 reference

12 December 2020

Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis).

1 reference

12 December 2020

1 reference

12 December 2020

GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.

1 reference

12 December 2020

Delayed development of disturbed mucopolysaccharide metabolism in a Hurler variant

1 reference

12 December 2020

The Hurler syndrome without abnormal mucopolysacchariduria.

1 reference

12 December 2020

Mucopolysaccharidosis by absence of alpha-fucosidase

1 reference

12 December 2020

Gml-ganglioside accumulation and β-galactosidase deficiency in a case of Gml-gangliosidosis (Landing disease)

1 reference

12 December 2020

Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis

1 reference

12 December 2020

[Classifiable and non-classifiable mucopolysaccharidoses]

1 reference

12 December 2020

Generalized gangliosidosis: beta-galactosidase deficiency.

1 reference

12 December 2020

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

1 reference

12 December 2020

The sulphatase of ox liver. 4. A note on the inhibition of sulphatases A and B

1 reference

12 December 2020

Lipid abnormalities in a variant of the Hurler syndrome

1 reference

12 December 2020

Hurler's pseudo-polydystrophy

1 reference

12 December 2020

GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?

1 reference

12 December 2020

Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).

1 reference

12 December 2020

Metachromatic leukodystrophy (MLD). VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues.

1 reference

12 December 2020

Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).

1 reference

12 December 2020

White-cell beta-galactosidase activity

1 reference

12 December 2020

Chemical pathology of G-m-1-gangliosidosis (generalized gangliosidosis).

1 reference

12 December 2020

Pathological findings in one case of neuronal and mesenchymal storage disease. Its relationship to lipidoses and to mucopolysaccharidoses.

1 reference

12 December 2020

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)

1 reference

12 December 2020

Neurovisceral storage disease: roentgenographic features and mode of inheritance.

1 reference

12 December 2020

Generalized gangliosidosis.

1 reference

12 December 2020

Landing's disease or early infantile amaurotic idiocy with generalized gangliosidosis of the GM 1 type

1 reference

12 December 2020

Lipomucopolysaccharidosis--a second look

1 reference

12 December 2020

Studies on sulphatases. 12. The arylsulphatases of human tissues

1 reference

12 December 2020

Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis

1 reference

12 December 2020

[Anatomo-clinical study of ocular lesions due to gangliosidosis of the GM1 Norman-Landing type]

1 reference

12 December 2020

ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM

1 reference

12 December 2020

Mannosidosis: isolation of oligosaccharide storage material from brain.

1 reference

12 December 2020

The genetic mucopolysaccharidoses

1 reference

12 December 2020

1 reference

12 December 2020

[Lipomucopolysaccharidosis, A new storage disease]

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00278928

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4246487%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

1 reference