Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection (Q68019029)

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scientific article published on 01 August 1992

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English	Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection	scientific article published on 01 August 1992

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

title

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

main subject

Salla disease

1 reference

based on heuristic

inferred from title

genetic carrier screening

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

author name string

G. M. Mancini

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

P. Hu

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

F. W. Verheijen

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

O. P. van Diggelen

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

H. C. Janse

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

W. J. Kleijer

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

F. A. Beemer

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

F. G. Jennekens

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1505579

retrieved

3 October 2022

language of work or name

English

1 reference

stated in

National Center for Biotechnology Information

PubMed publication ID

1505579

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1505579

retrieved

3 October 2022

publication date

1 August 1992

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

published in

European Journal of Pediatrics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

volume

151

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

issue

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

page(s)

590-595

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

cites work

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/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Changes in the carbohydrate metabolism of mitogenicellay stimulated human peripheral lymphocytes I. Stimulation by phytohaemagglutinin

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialic Acid Storage Disorders: Observations on Clinical and Biochemical Variation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A thin layer chromatographic technique for screening for sialuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of sialic acid using 2-thiobarbituric acid in the absence of hazardous sodium arsenite

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and laboratory diagnosis of Salla disease in infancy and childhood

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Salla disease": a new lysosomal storage disorder

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nephrosis in two siblings with infantile sialic acid storage disease.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

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/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

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/1505579

retrieved

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/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

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/1505579

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/1505579

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Salla disease in one non-Finnish patient

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The thiobarbituric acid assay of sialic acids

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Free sialic acid storage disease. A new Italian case.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/1505579

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF01957729

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

PubMed publication ID

1505579

1 reference

stated in

Europe PubMed Central

PubMed publication ID

1505579

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1505579%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 September 2019

 

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