Pompe’s disease is a neuromuscular disorder caused by deficiency of lysosomal acid α–glucosidase. Recombinant human α– glucosidase is under evaluation as therapeutic drug. In light of this development we studied the natural course of cases not fitting the definition of classic infantile Pompe’s disease. Our review of 109 reports including 225 cases shows a continuous spectrum of phenotypes. The onset of symptoms ranged from 0 to 71 years. Based on the available literature, no criteria to delineate clinical sub–types could be established.

The natural course of non-classic Pompe's disease; a review of 225 published cases.

Evasion of immune responses to introduced human acid α-glucosidase by liver-restricted expression in glycogen storage disease type II

Objective To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the identification, at birth, of individuals who have a lysosomal storage disorder. Methods A retrospective analysis was conducted of Guthrie cards that were collected from newborns in Denmark during the period 1982-1997. Patients whose lysosomal storage disorder (LSD; 47 representing 12 disorders) was diagnosed in Denmark during the period 1982-1997 were selected, and their Guthrie cards were retrieved from storage. Control cards (227) were retrieved from the same period. Additional control cards (273) were collected from the South Australian Screening Centre (Australia). Results From 2 protein and 94 metabolite markers, 15 were selected and evaluated for their use in the identification of LSDs. Glycosphingolipid and oligosaccharide markers showed 100% sensitivity and specificity for the identification of Fabry disease, alpha-mannosidosis, mucopolysaccharidosis (MPS) IVA, MPS IIIA, Tay-Sachs disease, and I-cell disease. Lower sensitivities were observed for Gaucher disease and sialidosis. No useful markers were identified for Krabbe disease, MPS II, Pompe disease, and Sandhoff disease. The protein markers LAMP-1 and saposin C were not able to differentiate individuals who had an LSD from the control population. Conclusions Newborn screening for selected LSDs is possible with current technology. However, additional development is required to provide a broad coverage of disorders in a single, viable program.

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.

General Introduction: Affinity Chromatography (I. Parikh, P. Cuatrecasas). Weak Affinity Chromatography (S. Ohlson, D. Zopf). Affinity Chromatography with Biological Ligands: Applications of Bacterial ImmunoglobulinBinding Proteins to the Purification of Immunoglobulins (M.D.P. Boyle et al.). ReceptorAffinity Chromatography (M. Nachman et al.). Immunoaffinity Separation: Immunoaffinity Purification of Organelles (P.J. Richardson, J.P. Luzio). Affinity Chromatography with Biomimetic Ligands: Affinity Chromatography with Immobilized Dyes (E. Stellwagen). Novel Concepts and Applications: Biorecognition in Molecularly Imprinted Polymers (G. Wulff). AffinityRelated Techniques: Model Systems Employing Affinity Chromatography for Extraction of Toxic Substances Directly from Whole Blood (S. Margel, L. Marcus). 27 additional articles. Index.

Molecular interactions in bioseparations

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease

. A glucose-containing tetrasaccharide (13 mg/24 h) was isolated from the urine of a ten year old boy with the “childhood form” of glycogen storage disease type II (Pompe's disease). The structure, established by sugar analysis, methylation analysis, optical rotation and enzymatic degradation was found to be α-D-Glc p (lr6)-α-D-Glc p (l r 4).α-D-Glc p (1r4)-D-Glc. The same compound was also isolated in small amounts (1 mg/24 h) from normal urine. Larger glucose-containing oligosaccharides, not detected in normal urine were also present in the urine of the Pompe case.

Increased Excretion of a Glucose‐Containing Tetrasaccharide in the Urine of a Patient with Glycogen Storage Disease Type II (Pompe's Disease)

Handle everyday research tasks with reliable, citation-backed results

Your personal Research Agent to handle research tasks with citation-backed results

Popular Tasks used by Researchers

How can I help with your research?

Meet SciSpace

Get more enhanced response by uploading the PDFs you want me to reference.

No relevant PDFs in your library

SciSpace is the AI research assistant for academics. Run systematic literature reviews on 280M+ papers, and write papers with cited sources. Trusted by 1M+ students, PhDs & researchers.

SciSpace | AI for Research

Analyze PDFs

Code & Manuscripts

Funding & Grants

Literature & Patents

Medical & Clinical Data

Systematic Review

Visualize & Present

Web & Data

Build a Google Scholar-like website for your research.

Build a website

Create charts and images for your research

Create a Chart

Write a paper for submission to a journal

Draft a manuscript

Patent Search

Design eye-catching scientific posters in minutes.

Scientific Poster Generation

Systematic Literature Review

One task is running at the moment. Your messages will be shown right after.

Drag and drop or click here to browse

Loved by <highlight>1 million+</highlight> researchers

Extract a list of specific topics and their sources from unstructured text

Topics

Compare and analyze relevant papers that matches with your search

Papers

Get insights from PDFs and bookmarked papers from your library

My library

Recent searches

Try searching for:

Catch AI-generated content in scholarly and non-scholarly content

{ai} Detector

Ai Writer

Get PDF Summaries, highlighted text explanations 

Chat with PDF

Effortlessly create in-text citations and bibliographies in APA and 2,500 other formats

Citation generator

Get explanations, summaries, and answers on academic papers

Ease up your research workflow with {scispace}'s cohort of exciting AI tools

Elevate your academic writing skills and convey your ideas the way you want

Paraphraser

Explore our range of reading and writing tools

Your file is being prepared and should be ready in a few minutes. If it's a large file, it might take a bit longer. You can close this window, and we'll email you the file when it's done.

You have reached a maximum limit of <strong>{limit}</strong> columns in the table. Remove at least <strong>1</strong> column to add or create another one.

S. Svensson

Author Tools

Chat about Author

Papers

Increased Excretion of a Glucose‐Containing Tetrasaccharide in the Urine of a Patient with Glycogen Storage Disease Type II (Pompe's Disease)