Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1365-2788.1974.tb01229.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.
Neurol Genet
June 2024
From the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Objectives: The causes of intellectual disability (ID) are varied, with as many as 1,400 causative genes. We attempted to identify the causative gene in a patient with long-standing undiagnosed ID.
Methods: Although this was an isolated case with no family history, we searched for the causative gene using trio-based whole-exome sequencing (trio-WES), because severe ID is often caused by genetic variations, and inherited metabolic disorders (IMDs) are assumed to be the cause when regression and epilepsy occur.
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
Hum Mutat
September 1995
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGUFin, enriched in Finland; all the other known AGU mutations are family-specific. We developed exon-specific primers to facilitate mutation search directly from the genomic DNA and identified a novel mutation, designated AGUFin minor, in seven Finnish AGUFin compound heterozygote patients.
View Article and Find Full Text PDFAutomated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease.
J Chromatogr
January 1991
E. A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University Medical Center, MO 63104.
Eighty-five clinical urine samples and nineteen urine samples previously found by other laboratories to suggest genetic metabolic defects were prepared for trimethylsilylation by treatment with urease, followed by azeotropic dehydration. The "Target Analyte Search" program provided with the VG Trio 2 gas chromatograph-mass spectrometer required 6 min to quantify 103 compounds relative to endogenous urinary creatinine. This technique has been used to confirm diagnoses including cystinuria, lysinuria, medium-chain acyldehydrogenase deficiency, ornithine transcarbamylase deficiency, aspartylglucosaminuria, methylmalonic, propionic and glutaric acidurias.
View Article and Find Full Text PDF[Salla disease (sialuria, Finnish type). New clinical presentation in the 1st Argentine report].
Medicina (B Aires)
September 1991
Centro de Estudio de las Metabolopatías Congénitas, Hospital de Niños, Córdoba, Argentina.
Studies in three sibs from an Argentine family, aged 29, 18 and 9 years, suffering from a severe neurological disease, revealed in the two older brothers (the third died), ultrastructural changes in cellular vacuolization in diverse peripheral tissues (conjunctival, gum and skin biopsies) and in blood lymphocytes. These data were suggestive of mucopolysaccharidosis, mucolipidosis or glycoproteinosis. However, the activity of lysosomal enzymes, the excretion of mucopolysaccharides and oligosaccharides reactive to orcinol, as well as the search for aspartylglucosaminuria gave normal values.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!