Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients (Q35053231)

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English	Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients	scientific article

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scholarly article

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1 March 2020

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients (English)

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1 March 2020

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Gaucher's disease

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Anne-Katrin Giese

2

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Ulrike Grittner

3

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Arndt Rolfs

1

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Daniel Mascher

4

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Deborah Elstein

5

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Ari Zimran

6

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Tobias Böttcher

7

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Jan Lukas

8

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Rayk Hübner

9

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Uta Gölnitz

10

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Anja Röhle

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1 March 2020

Ales Dudesek

12

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Wolfgang Meyer

13

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Matthias Wittstock

14

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1 March 2020

Hermann Mascher

15

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20 November 2013

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1 March 2020

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1 March 2020

8

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1 March 2020

e79732

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1 March 2020

11

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copyright license

Creative Commons Attribution 3.0 Unported

20 November 2013

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April 2022 Public Data File from Crossref

copyright status

0 references

Newborn screening for lysosomal storage disorders in hungary.

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Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

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Newborn screening for lysosomal storage disorders

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Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

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1 reference

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inferred from PubMed ID database lookup

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Identifiers

10.1371/JOURNAL.PONE.0079732

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1 March 2020

2013PLoSO...879732R

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1 March 2020

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1 March 2020

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