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1.
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Mol Genet Metab
; 139(1): 107563, 2023 05.
Article
in English
| MEDLINE | ID: mdl-37086570
2.
Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease.
J Neurosci
; 37(40): 9617-9631, 2017 10 04.
Article
in English
| MEDLINE | ID: mdl-28847804
3.
Tandem mass spectrometry assay of ß-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Mol Genet Metab
; 123(2): 135-139, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29100779
4.
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
Proc Natl Acad Sci U S A
; 111(13): 4934-9, 2014 Apr 01.
Article
in English
| MEDLINE | ID: mdl-24639522
5.
Glucosylsphingosine is a key biomarker of Gaucher disease.
Am J Hematol
; 91(11): 1082-1089, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27441734
6.
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Brain
; 138(Pt 9): 2648-58, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26117366
7.
A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.
Mol Genet Metab
; 111(2): 92-100, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24044919
8.
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
Mol Genet Metab
; 113(1-2): 84-91, 2014.
Article
in English
| MEDLINE | ID: mdl-25085280
9.
Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.
Mol Genet Metab
; 111(2): 209-11, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24418695
10.
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients.
J Proteome Res
; 12(5): 2013-21, 2013 May 03.
Article
in English
| MEDLINE | ID: mdl-23464927
11.
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.
J Pediatr
; 163(2): 498-503, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23465405
12.
Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.
Am J Med Genet A
; 161A(10): 2431-43, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23997011
13.
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Proc Natl Acad Sci U S A
; 107(45): 19473-8, 2010 Nov 09.
Article
in English
| MEDLINE | ID: mdl-20962279
14.
Letter to the Editor on Pastores et al. Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease.
Blood Cells Mol Dis
; 64: 13-14, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28301810
15.
Use of Identical INN "Imiglucerase" for Different Drug Products: Impact Analysis of Adverse Events in a Proprietary Global Safety Database.
Drug Saf
; 45(2): 127-136, 2022 02.
Article
in English
| MEDLINE | ID: mdl-35020177
16.
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease.
Mol Genet Metab
; 102(1): 57-60, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-20864368
17.
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.
Mol Genet Metab
; 104(1-2): 144-8, 2011.
Article
in English
| MEDLINE | ID: mdl-21831684
18.
Diagnosis of the mucopolysaccharidoses.
Rheumatology (Oxford)
; 50 Suppl 5: v41-8, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22210670
19.
Sargramostim (rhu GM-CSF) Improves Survival of Non-Human Primates with Severe Bone Marrow Suppression after Acute, High-Dose, Whole-Body Irradiation.
Radiat Res
; 195(2): 191-199, 2021 02 01.
Article
in English
| MEDLINE | ID: mdl-33302291
20.
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Mol Genet Metab
; 99(4): 379-83, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20080426