Neuraminidase deficiency: case report and review of the phenotype (Q39772950)

14 September 2017

Neuraminidase deficiency: case report and review of the phenotype (English)

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14 September 2017

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Young ID

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14 September 2017

Young EP

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14 September 2017

Mossman J

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14 September 2017

Fielder AR

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14 September 2017

Moore JR

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14 September 2017

language of work or name

English

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publication date

1 May 1987

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Journal of Medical Genetics

14 September 2017

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14 September 2017

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14 September 2017

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14 September 2017

283-290

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Protein measurement with the Folin phenol reagent

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

An improved thin-layer chromatographic method for urinary oligosaccharide screening

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

The cherry-red spot-myoclonus syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Sialidosis: a review of human neuraminidase deficiency

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of hurler and sanfilippo diseases

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

The quantitative determination of glycosaminoglycans in urine with Alcian Blue 8GX

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

[Lipomucopolysaccharidosis, A new storage disease]

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Mucolipidosis I — A sialidosis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

Neuraminidase deficiency in the original patient with the Goldberg Syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050052

The genetic mucolipidoses. Diagnosis and differential diagnosis

17 June 2018

1 reference

12 December 2020

[Mucolipidosis type I. Sialidosis due to alpha-2-6-neuraminidase deficiency with neurological symptoms]

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12 December 2020

The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency

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12 December 2020

Screening for urinary oligosaccharides and simple sugars by thin-layer chromatography

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12 December 2020

Sialidosis (mucolipidosis I)

1 reference

12 December 2020

A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study

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12 December 2020

A severe infantile sialidosis: clinical, biochemical, and microscopic features

1 reference

12 December 2020

Mucolipidosis I: Studies of sialidase activity and a prenatal diagnosis

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12 December 2020

A mild variant of mucolipidosis type 4 (ML4)

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12 December 2020

A severe infantile mucolipidosis. Clinical, biochemical, and pathologic features

1 reference

12 December 2020

A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1

1 reference

12 December 2020

Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient

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12 December 2020

Identifiers

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14 September 2017

PubMed publication ID

3585942

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