Related references
Note: Only part of the references are listed.Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up
Clara Carnicer-Caceres et al.
JOURNAL OF CLINICAL MEDICINE (2021)
Diagnostic strategy for females suspected of Fabry disease
Sukirthini Balendran et al.
CLINICAL GENETICS (2020)
Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene
Kati Valtola et al.
HEART (2020)
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
Yin-Hsiu Chien et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders
Daniele Mandia et al.
JOURNAL OF NEUROLOGY (2020)
Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia
Salwa A. Alhemyadi et al.
SAUDI MEDICAL JOURNAL (2020)
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis
Hiroki Maruyama et al.
GENETICS IN MEDICINE (2019)
Strategies of Screening for Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy
Sergey Moiseev et al.
MAYO CLINIC PROCEEDINGS (2019)
Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry Disease
Darrell B. Newman et al.
MAYO CLINIC PROCEEDINGS (2019)
Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent's University Hospital over a 6-month period
J. Lambe et al.
IRISH JOURNAL OF MEDICAL SCIENCE (2018)
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Alberto B. Burlina et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses
Ana Carolina Brusius-Facchin et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2018)
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
Magali Pettazzoni et al.
PLOS ONE (2017)
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
Giulia Polo et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2017)
Current molecular genetics strategies for the diagnosis of lysosomal storage disorders
Roberto Giugliani et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2016)
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics
Valentina Favalli et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
Malte Lenders et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
Sebastien Levesque et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Bouwien E. Smid et al.
JOURNAL OF MEDICAL GENETICS (2015)
Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri
Patrick V. Hopkins et al.
JOURNAL OF PEDIATRICS (2015)
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
Anne-Katrin Giese et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy
L. van Dussen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
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
Arndt Rolfs et al.
PLOS ONE (2013)
Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility
Lorne A. Clarke et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
Raymond Y. Wang et al.
GENETICS IN MEDICINE (2011)
Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease
S. M. Rombach et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2010)
Mutations of the GLA Gene in Young Patients With Stroke The PORTYSTROKE Study-Screening Genetic Conditions in PORTuguese Young STROKE Patients
Miguel Viana Baptista et al.
STROKE (2010)
Lysosomal disorders: From storage to cellular damage
Andrea Ballabio et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population
Wim Terryn et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2008)
High incidence of later-onset Fabry disease revealed by newborn screening
Marco Spada et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)