(Q46694254)

English

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

Jana Ledvinová

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

author name string

O P van Diggelen

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

Ya V Voznyi

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

J L M Keulemans

3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

K Schoonderwoerd

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

E Mengel

6

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

M Zschiesche

7

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

R Santer

8

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

K Harzer

9

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

publication date

1 January 2005

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

28

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

733-741

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

https://scigraph.springernature.com/pub.10.1007/s10545-005-0105-y

0 references

Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures

1 reference

https://api.crossref.org/works/10.1007%2FS10545-005-0105-Y

21 January 2018

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Niemann-Pick diseases types A, B and C.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16151905

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-005-0105-Y

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/16151905

ResearchGate publication ID

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