scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1038333807 |
P356 | DOI | 10.1007/S10545-011-9360-2 |
P698 | PubMed publication ID | 21687968 |
P2093 | author name string | Amanda Lam | |
Simon Heales | |||
Victoria Manwaring | |||
Katie Bainbridge | |||
Ashok Vellodi | |||
Derek Burke | |||
Niamh Finnegan | |||
Helen Prunty | |||
Rebecca Franses | |||
P2860 | cites work | Electrochemical determination of carbohydrates: enzyme electrodes and amperometric detection in liquid chromatography and capillary electrophoresis | Q33852726 |
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling | Q33873749 | ||
The natural course of non-classic Pompe's disease; a review of 225 published cases | Q36245480 | ||
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting | Q37031665 | ||
Therapeutic approaches in glycogen storage disease type II/Pompe Disease. | Q37329535 | ||
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk | Q40534571 | ||
Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometry | Q41937352 | ||
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease | Q44312356 | ||
Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution–electrospray ionization tandem mass spectrometry | Q44414194 | ||
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper | Q45019666 | ||
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 disease | Q46484079 | ||
The identity and origin of oligosaccharides present in the faeces and urine of sick infants | Q67029376 | ||
Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease | Q73190685 | ||
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease | Q77304104 | ||
P433 | issue | 2 | |
P304 | page(s) | 311-316 | |
P577 | publication date | 2011-06-18 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases | |
P478 | volume | 35 |
Q36342315 | A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations |
Q42226765 | Biomarkers in Lysosomal Storage Diseases |
Q52647390 | Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. |
Q98292028 | Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease |
Q91853696 | Lysosomal diseases: Overview on current diagnosis and treatment |
Q38202920 | Lysosomal diseases: diagnostic update |
Q33622356 | New tools and approaches to newborn screening: ready to open Pandora's box? |
Q35134207 | Newborn screening for lysosomal storage diseases |
Q61796184 | PDGF-BB serum levels are decreased in adult onset Pompe patients |
Q38800985 | Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel |
Q94553548 | Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort |
Search more.