Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases

scientific article published on 18 June 2011

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1038333807
P356DOI10.1007/S10545-011-9360-2
P698PubMed publication ID21687968

P2093author name stringAmanda Lam
Simon Heales
Victoria Manwaring
Katie Bainbridge
Ashok Vellodi
Derek Burke
Niamh Finnegan
Helen Prunty
Rebecca Franses
P2860cites workElectrochemical determination of carbohydrates: enzyme electrodes and amperometric detection in liquid chromatography and capillary electrophoresisQ33852726
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counsellingQ33873749
The natural course of non-classic Pompe's disease; a review of 225 published casesQ36245480
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meetingQ37031665
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.Q37329535
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milkQ40534571
Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometryQ41937352
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe diseaseQ44312356
Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution–electrospray ionization tandem mass spectrometryQ44414194
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paperQ45019666
Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.Q45972040
Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.Q46039894
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe diseaseQ46484079
The identity and origin of oligosaccharides present in the faeces and urine of sick infantsQ67029376
Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe diseaseQ73190685
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the diseaseQ77304104
P433issue2
P304page(s)311-316
P577publication date2011-06-18
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleUrine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases
P478volume35

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cites work (P2860)
Q36342315A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
Q42226765Biomarkers in Lysosomal Storage Diseases
Q52647390Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
Q98292028Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease
Q91853696Lysosomal diseases: Overview on current diagnosis and treatment
Q38202920Lysosomal diseases: diagnostic update
Q33622356New tools and approaches to newborn screening: ready to open Pandora's box?
Q35134207Newborn screening for lysosomal storage diseases
Q61796184PDGF-BB serum levels are decreased in adult onset Pompe patients
Q38800985Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel
Q94553548Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

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