PortalPublikationenCritical assessment of chitotriosidase analysis in the ratio...

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.

Standard

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. / Ries, Markus; Schaefer, Ellen; Lührs, Till; Mani, Latha; Kuhn, Jana; Vanier, Marie T; Krummenauer, Frank; Gal, Andreas; Beck, Michael; Mengel, Eugen.

in: J INHERIT METAB DIS, Jahrgang 29, Nr. 5, 5, 2006, S. 647-652.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Ries, M, Schaefer, E, Lührs, T, Mani, L, Kuhn, J, Vanier, MT, Krummenauer, F, Gal, A, Beck, M & Mengel, E 2006, 'Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.', J INHERIT METAB DIS, Jg. 29, Nr. 5, 5, S. 647-652. <http://www.ncbi.nlm.nih.gov/pubmed/16972172?dopt=Citation>

APA

Ries, M., Schaefer, E., Lührs, T., Mani, L., Kuhn, J., Vanier, M. T., Krummenauer, F., Gal, A., Beck, M., & Mengel, E. (2006). Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J INHERIT METAB DIS, 29(5), 647-652. [5]. http://www.ncbi.nlm.nih.gov/pubmed/16972172?dopt=Citation

Vancouver

Ries M, Schaefer E, Lührs T, Mani L, Kuhn J, Vanier MT et al. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J INHERIT METAB DIS. 2006;29(5):647-652. 5.

Bibtex

@article{41ee30a71b5841ff96ffd95c61775292,
title = "Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.",
abstract = "Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann-Pick disease type A/B) and Niemann-Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children",
author = "Markus Ries and Ellen Schaefer and Till L{\"u}hrs and Latha Mani and Jana Kuhn and Vanier, {Marie T} and Frank Krummenauer and Andreas Gal and Michael Beck and Eugen Mengel",
year = "2006",
language = "Deutsch",
volume = "29",
pages = "647--652",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "5",

}

RIS

TY - JOUR

T1 - Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.

AU - Ries, Markus

AU - Schaefer, Ellen

AU - Lührs, Till

AU - Mani, Latha

AU - Kuhn, Jana

AU - Vanier, Marie T

AU - Krummenauer, Frank

AU - Gal, Andreas

AU - Beck, Michael

AU - Mengel, Eugen

PY - 2006

Y1 - 2006

N2 - Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann-Pick disease type A/B) and Niemann-Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children

AB - Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann-Pick disease type A/B) and Niemann-Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children

M3 - SCORING: Zeitschriftenaufsatz

VL - 29

SP - 647

EP - 652

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 5

M1 - 5

ER -