Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families (Q44958515)

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English	Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

3128687

retrieved

7 December 2017

title

Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families (English)

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Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

main subject

Salla disease

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based on heuristic

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author

Jacqueline A O'Flaherty

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John Hopwood

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3

object named as

J J Hopwood

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Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

author name string

P R Clements

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1

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Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

J A Taylor

series ordinal

2

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Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

publication date

1 January 1988

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Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

published in

Journal of Inherited Metabolic Disease

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stated in

Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

volume

11

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stated in

Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

issue

1

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Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

page(s)

30-44

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Europe PubMed Central

PubMed publication ID

3128687

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7 December 2017

cites work

Methods for the quantitative estimation of N-acetylneuraminic acid and their application to hydrolysates of sialomucoids

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FBF01800055

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21 January 2018

2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria

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Crossref

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https://api.crossref.org/works/10.1007%2FBF01800055

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21 January 2018

Subcellular localization and tissue distribution of sialic acid precursor-forming enzymes

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Crossref

reference URL

https://api.crossref.org/works/10.1007%2FBF01800055

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21 January 2018

Description of a new type of melituria, called sialuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elimination of 2-deoxyribose interference in the thiobarbituric acid determination of N-acetylneuraminic acid in tumor cells by pH-dependent extraction with cyclohexanone

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital ascites as a presenting sign of lysosomal storage disease

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The metabolism of O-acyl-N-acylneuraminic acids. Biosynthesis of O-acylated sialic acids in bovine and equine submandibular glands

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbohydrate interference in assays based on the periodate-coupled thiobarbituric acid reagent

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Photometric determination of sialic acids in serum and cerebrospinal fluid with the thiobarbituric acid method

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased Urinary Excretion of Free N-Acetylneuraminic Acid in Thirteen Patients with Salla Disease

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variability of fibroblast lysosomal acid hydrolases with reference to the detection of enzyme deficiencies

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An improved thin-layer chromatographic method for urinary oligosaccharide screening

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A modification of the Lowry procedure to simplify protein determination in membrane and lipoprotein samples

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple detection of sialic acid storage disorders by urinary 'free' and 'total' sialic acid determinations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis and confirmation of infantile sialic acid storage disease

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialuria: a second case

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-Acetylneuraminic acid storage disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Salla disease": a new lysosomal storage disorder

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The sialic acids. I. The structure and enzymatic synthesis of N-acetylneuraminic acid.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile type of sialic acid storage disease with sialuria.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fluorometric assay of sialic acid in the picomole range: a modification of the thiobarbituric acid assay

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and Identification of 2-Deoxy-2,3-dehydro-N-Acetylneuraminic Acid from the Urine of a Patient with Sialuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Serum creatinine determination without protein precipitation]

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/3128687

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF01800055

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3128687

retrieved

7 December 2017

PubMed publication ID

3128687

1 reference

stated in

Europe PubMed Central

PubMed publication ID

3128687

retrieved

7 December 2017

 

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