المؤلفون: Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S

المصدر: Journal of Medical Genetics. 53(6)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Clinical Research, Mucopolysaccharidoses (MPS), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adolescent, Adult, Child, Child, Preschool, Female, Glucuronidase, Humans, Infant, Lysosomal Storage Diseases, Male, Mucopolysaccharidosis VII, Phenotype, Surveys and Questionnaires, Young Adult, Clinical genetics, Genetics, Metabolic disorders, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2g54h4x6Test

المؤلفون: Venier, Rosemarie E., Igdoura, Suleiman A.

المصدر: Journal of Medical Genetics; Sep2012, Vol. 49 Issue 9, p591-597, 7p, 3 Diagrams, 1 Chart

مصطلحات موضوعية: LYSOSOMAL storage diseases, GLUCOSYLCERAMIDES, MOLECULES, DRUGS, INBORN errors of metabolism

المؤلفون: Fuller, Maria, Tucker, Justin N., Lang, Debbie L., Dean, Caroline J., Fietz, Michael J., Meikle, Peter J., Hopwood, John J.

المصدر: Journal of Medical Genetics; Jun2011, Vol. 48 Issue 6, p422-425, 4p, 1 Chart, 1 Graph

مصطلحات موضوعية: LYSOSOMES, LYSOSOMAL storage diseases, GLYCOGEN storage disease type II, METACHROMATIC leukodystrophy, MUCOPOLYSACCHARIDOSIS

المؤلفون: Froissart, R., Cheillan, D., Bouvier, R., Tourret, S., Bonnet, V., Piraud, M., Maire, I.

المصدر: Journal of Medical Genetics; Nov2005, Vol. 42 Issue 11, p829-836, 8p, 2 Color Photographs, 1 Black and White Photograph, 4 Charts

مصطلحات موضوعية: PRENATAL diagnosis, SIALIC acids, AMINO compounds, LYSOSOMAL storage diseases, INBORN errors of metabolism, OBSTETRICAL diagnosis, GENETIC mutation

المؤلفون: Hoffmann, B., De Lorenzo, A. Garcia, Mehta, A., Beck, M., Widmer, U., Ricci, R.

المصدر: Journal of Medical Genetics; Mar2005, Vol. 42 Issue 3, p247-252, 6p, 1 Chart, 2 Graphs

مصطلحات موضوعية: LYSOSOMAL storage diseases, ENZYMES, INBORN errors of metabolism, X chromosome abnormalities, QUALITY of life, HUMAN chromosome abnormalities

المؤلفون: Raymonde Bouvier, Roseline Froissart, Séverine Tourret, David Cheillan, Monique Piraud, Véronique Bonnet, Irène Maire

المصدر: Journal of Medical Genetics. 42:829-836

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Genotype, Nonsense mutation, Gestational Age, Biology, Pregnancy, Prenatal Diagnosis, Genetics, Lysosomal storage disease, medicine, Humans, Missense mutation, Sialidosis, Genetics (clinical), Splice site mutation, Infant, Newborn, Sialic Acid Storage Disease, Infant, medicine.disease, N-Acetylneuraminic Acid, Lysosomal Storage Diseases, Phenotype, Fetal disease, Mutation, Immunology, Female, Original Article, Galactosialidosis, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::125a80d36dd6380d82de79a2dca9c1acTest
https://doi.org/10.1136/jmg.2004.029744Test

المؤلفون: Maria Fuller, Peter J. Meikle, Debbie L. Lang, Michael Fietz, Justin N. Tucker, Caroline J. Dean, John Joseph Hopwood

المصدر: Journal of medical genetics. 48(6)

مصطلحات موضوعية: Male, medicine.medical_specialty, Mucopolysaccharidosis, Iduronate Sulfatase, Biology, Gastroenterology, Sensitivity and Specificity, Genetic Heterogeneity, Multiple sulfatase deficiency, Internal medicine, Genetics, medicine, Lysosomal storage disease, Humans, Mass Screening, Child, Genetics (clinical), Mass screening, Glycosaminoglycans, Mucolipidosis, Immunochemistry, Australia, Infant, Newborn, Proteins, Clinical Enzyme Tests, medicine.disease, Fabry disease, Dried blood spot, High-Throughput Screening Assays, Metachromatic leukodystrophy, Lysosomal Storage Diseases, Hexosaminidases, alpha-Galactosidase, Immunology, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7747b1d1d3f5f22dafb6889d5c61b2Test
https://pubmed.ncbi.nlm.nih.gov/21415080Test

المؤلفون: Pertti Sistonen, Johanna Schleutker, Pertti Aula

المصدر: Journal of medical genetics. 33(1)

مصطلحات موضوعية: Adult, Male, Risk, Prenatal diagnosis, Biology, chemistry.chemical_compound, Pregnancy, Prenatal Diagnosis, Neuraminic acid, Genetics, medicine, Humans, Genetics (clinical), Alleles, Fetus, Linkage Disequilibrium Mapping, Genetic Carrier Screening, Haplotype, Infant, Newborn, medicine.disease, Sialic acid, Pedigree, Lysosomal Storage Diseases, Fetal Diseases, Salla disease, chemistry, Haplotypes, Genetic marker, Female, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9194222bf77f71070b20953bed7d319Test
https://pubmed.ncbi.nlm.nih.gov/8825046Test

المؤلفون: Lisbeth Tranebjærg, Ole K. Tollersrud, Øivind Nilssen, O Borud

المصدر: Journal of medical genetics. 31(5)

مصطلحات موضوعية: Adult, Male, Aspartylglucosaminuria, media_common.quotation_subject, Immigration, Molecular Sequence Data, Ethnic group, Pedigree chart, Genes, Recessive, Norwegian, Ethnic origin, Disease cluster, White People, Acetylglucosamine, Northern norway, Genetics, medicine, Humans, Point Mutation, Genetics (clinical), Finland, media_common, DNA Primers, Molecular Epidemiology, Polymorphism, Genetic, Base Sequence, Norway, Aspartylglucosylaminase, Middle Aged, medicine.disease, language.human_language, Pedigree, Lysosomal Storage Diseases, Geography, language, Female, Demography, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa147b3930035d6f37dcc6ddab0cf256Test
https://pubmed.ncbi.nlm.nih.gov/8064811Test

المؤلفون: Cathey, S. S., Leroy, J. G., Wood, T., Eaves, K., Simensen, R. J., Kudo, M., Stevenson, R. E., Friez, M. J.

المصدر: Journal of Medical Genetics; Jan2010, Vol. 47 Issue 1, p4-4, 1p, 3 Black and White Photographs, 4 Charts

مصطلحات موضوعية: LYSOSOMAL storage diseases, MANNOSE, HYDROLASES, PHOSPHOTRANSFERASES, ENZYMES, HETEROZYGOSITY