| scholarly article | Q13442814 |
| P2093 | author name string | Sarah Young | |
| Christine Vianey-Saban | |||
| Monique Piraud | |||
| Pascal Laforêt | |||
| Roseline Froissart | |||
| Brigitte Chabrol | |||
| Marie de Antonio | |||
| Magali Pettazzoni | |||
| French Pompe study group | |||
| P2860 | cites work | Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 |
| Quantitation of some urinary oligosaccharides during pregnancy and lactation | Q28330725 | ||
| Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling | Q33873749 | ||
| Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating | Q34011226 | ||
| Progress and problems in muscle glycogenoses | Q34235074 | ||
| Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients | Q34554310 | ||
| Pompe disease in infants: improving the prognosis by newborn screening and early treatment. | Q35015184 | ||
| Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening | Q35848728 | ||
| Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. | Q37180852 | ||
| Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents | Q37518707 | ||
| Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques | Q37976637 | ||
| Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease | Q38621461 | ||
| The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease | Q40911219 | ||
| Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis | Q41122729 | ||
| A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). | Q41187734 | ||
| alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). | Q41854457 | ||
| Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometry | Q41937352 | ||
| Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry | Q43829515 | ||
| 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 | ||
| Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease | Q46484079 | ||
| Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency | Q46694245 | ||
| Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant | Q47670496 | ||
| N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease | Q48349387 | ||
| Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. | Q51372395 | ||
| Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. | Q51768443 | ||
| Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience | Q68238097 | ||
| A fluorometric assay of alpha-glucosidase and its application in the study of Pompe's disease | Q68504379 | ||
| Increased Excretion of a Glucose-Containing Tetrasaccharide in the Urine of a Patient with Glycogen Storage Disease Type II (Pompe's Disease) | Q69062004 | ||
| Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease | Q73190685 | ||
| GLYCOGEN STORAGE DISEASE | Q76856892 | ||
| Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases | Q84206437 | ||
| Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases | Q84395634 | ||
| Incidence of infantile Pompe disease in the Maroon population of French Guiana | Q88324216 | ||
| Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease | Q90753095 | ||
| Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study | Q91191892 | ||
| Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring | Q91529815 | ||
| P921 | main subject | biomarker | Q864574 |
| P304 | page(s) | 100583 | |
| P577 | publication date | 2020-05-01 | |
| P1433 | published in | Molecular Genetics and Metabolism Reports | Q27725363 |
| P1476 | title | Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort | |
| P478 | volume | 23 |
| Q101455773 | Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience |
| Q97517813 | Response to Heiner-Fokkema et al |
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