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

Newborn screening for lysosomal storage disorders

(2011) Kimitoshi Nakamura et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

(2011) N. Dekker et al.   BLOOD

How I treat Gaucher disease

(2011) A. Zimran   BLOOD

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

(2011) Raymond Y Wang et al.   GENETICS IN MEDICINE

Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease

(2011) L. van Dussen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

(2011) Johannes M. F. G. Aerts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

(2011) Paul J Orchard et al.   Journal of Neuroinflammation

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

(2010) Christiane Auray-Blais et al.   CLINICA CHIMICA ACTA

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

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare

(2009) Shraga Aviner et al.   BLOOD CELLS MOLECULES AND DISEASES

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

(2009) Kai-Ling Chang et al.   BLOOD CELLS MOLECULES AND DISEASES

Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose – response relationships

(2009) Carla EM Hollak et al.   EXPERT OPINION ON PHARMACOTHERAPY

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China

(2009) X.-Y. Mao et al.   NEUROSCIENCE LETTERS

Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention

(2007) J GROENER   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS