المؤلفون: Naxer, Sabine, Elabbasy, Mohamed, Herholz, Leonie, Breitling, Vivian, Finglas, Alan, Schlotawa, Lars, Schittkowski, Michael P., Gärtner, Jutta

المساهمون: Schittkowski, Michael P., 1Section for Strabismus and Neuroophthalmology, Department of Ophthalmology, University Medical Centre Goettingen, Robert-Koch-Str. 40, 37085 Goettingen, Germany, Naxer, Sabine, Elabbasy, Mohamed, Herholz, Leonie, 2Division for Neuropaediatrics, Department of Paediatrics and Adolescent Medicine, University Medical Centre Goettingen, 37075 Goettingen, Germany, Breitling, Vivian, Finglas, Alan, 3MSD Action Foundation, D15 Dublin, Ireland, Gärtner, Jutta, Schlotawa, Lars

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/124349; children10030595

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/124349
https://doi.org/10.3390/children10030595

المؤلفون: Finglas, Alan

المصدر: Journal of Inherited Metabolic Disease ; volume 43, issue 6, page 1143-1153 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12305
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12305
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12305

المؤلفون: Ahrens-Nicklas, Rebecca C., Adang, Laura A., Schlotawa, Lars, Olsen, Amber, Finglas, Alan, Pasquali, Marzia, Gelb, Michael H.

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 106995 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.106995
https://api.elsevier.com/content/article/PII:S1096719222004735?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719222004735?httpAccept=text/plain

المؤلفون: Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Della Bona, Maria, la Marca, Giancarlo, Vanderver, Adeline L, Waldman, Amy T, Adang, Laura, Sherbini, Omar, Woidill, Sarah, Suhr, Teryn, Kurtzberg, Joanne, Beltran-Quintero, Maria L, Escolar, Maria, Aiuti, Alessandro, Finglas, Alan, Olsen, Amber, Gelb, Michael H

مصطلحات موضوعية: Leukocytes, Humans, Leukodystrophy, Metachromatic, Cerebroside-Sulfatase, Sulfoglycosphingolipids, Chromatography, Liquid, Molecular Structure, Tandem Mass Spectrometry, Multiple Sulfatase Deficiency Disease, Dried Blood Spot Testing

وصف الملف: application/pdf

Relation: Analytical chemistry; https://hdl.handle.net/10161/24564

الاتاحة: https://hdl.handle.net/10161/24564

المؤلفون: Schittkowski, Michael P., Naxer, Sabine, Elabbasy, Mohamed, Herholz, Leonie, Breitling, Vivian, Finglas, Alan, Gärtner, Jutta, Schlotawa, Lars

المصدر: Children; Mar2023, Vol. 10 Issue 3, p595, 7p

مصطلحات موضوعية: GENETIC mutation, SPHINGOLIPIDOSES, OPHTHALMOLOGISTS, PHYSICIANS' attitudes, GENETIC testing, DIFFERENTIAL diagnosis, OPTICAL coherence tomography, RETINAL diseases, VISION disorders, RARE diseases

المؤلفون: Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Della Bona, Maria, la Marca, Giancarlo, Vanderver, Adeline L., Waldman, Amy T., Adang, Laura, Sherbini, Omar, Woidill, Sarah, Suhr, Teryn, Kurtzberg, Joanne, Beltran-Quintero, Maria L., Escolar, Maria, Aiuti, Alessandro, Finglas, Alan, Olsen, Amber, Gelb, Michael H.

المساهمون: National Institute of Diabetes and Digestive and Kidney Diseases

المصدر: Analytical Chemistry ; volume 92, issue 9, page 6341-6348 ; ISSN 0003-2700 1520-6882

الاتاحة: http://dx.doi.org/10.1021/acs.analchem.9b05274
https://pubs.acs.org/doi/pdf/10.1021/acs.analchem.9b05274

المؤلفون: Ahrens-Nicklas, Rebecca, Schlotawa, Lars, Ballabio, Andrea, Brunetti-Pierri, Nicola, De Castro, Mauricio, Dierks, Thomas, Eichler, Florian, Ficicioglu, Can, Finglas, Alan, Gaertner, Jutta, Kirmse, Brian, Klepper, Joerg, Lee, Marcus, Olsen, Amber, Parenti, Giancarlo, Vossough, Arastoo, Vanderver, Adeline, Adang, Laura A.

المساهمون: Ahrens-Nicklas, Rebecca, Schlotawa, Lar, Ballabio, Andrea, Brunetti-Pierri, Nicola, De Castro, Mauricio, Dierks, Thoma, Eichler, Florian, Ficicioglu, Can, Finglas, Alan, Gaertner, Jutta, Kirmse, Brian, Klepper, Joerg, Lee, Marcu, Olsen, Amber, Parenti, Giancarlo, Vossough, Arastoo, Vanderver, Adeline, Adang, Laura A.

مصطلحات موضوعية: Care, Consensu, Leukodystrophy, Mucopolysaccharidose, Multiple sulfatase deficiency, Outcome, Prevention, Therapy, Endocrinology, Diabetes and Metabolism, Biochemistry, Molecular Biology, Genetic

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000428001200172; volume:123; issue:3; firstpage:337; lastpage:346; numberofpages:10; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/11588/710634; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041598594; http://www.elsevier.com/inca/publications/store/6/2/2/9/2/0/index.htt

الاتاحة: http://hdl.handle.net/11588/710634
https://doi.org/10.1016/j.ymgme.2018.01.005
http://www.elsevier.com/inca/publications/store/6/2/2/9/2/0/index.htt

المؤلفون: Ahrens-Nicklas, Rebecca, Adang, Laura, Sherbini, Omar, Goodspeed, Kimberly, Hughes, Samuel, Finglas, Alan, Olsen, Amber, Schlotawa, Lars

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/73178

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/73178
https://doi.org/10.1016/j.ymgme.2018.12.030

المؤلفون: Ahrens-Nicklas, Rebecca, Schlotawa, Lars, Ballabio, Andrea, Brunetti, Nicola, De Castro, Mauricio, Ficicioglu, Can, Finglas, Alan, Kirmse, Brian, Lee, Marcus, Olsen, Amber, Vanderver, Adeline, Adang, Laura

المصدر: Molecular Genetics and Metabolism ; volume 123, issue 2, page S17 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.12.017
https://api.elsevier.com/content/article/PII:S1096719217307928?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719217307928?httpAccept=text/plain

المؤلفون: Adeline Vanderver, Florian Eichler, Nicola Brunetti-Pierri, Mauricio De Castro, Giancarlo Parenti, Joerg Klepper, Andrea Ballabio, Alan Finglas, Marcus Lee, Thomas Dierks, Brian Kirmse, Jutta Gaertner, Lars Schlotawa, Laura Adang, Amber Olsen, Rebecca C. Ahrens-Nicklas, Arastoo Vossough, Can Ficicioglu

المساهمون: Ahrens-Nicklas, Rebecca, Schlotawa, Lar, Ballabio, Andrea, Brunetti-Pierri, Nicola, De Castro, Mauricio, Dierks, Thoma, Eichler, Florian, Ficicioglu, Can, Finglas, Alan, Gaertner, Jutta, Kirmse, Brian, Klepper, Joerg, Lee, Marcu, Olsen, Amber, Parenti, Giancarlo, Vossough, Arastoo, Vanderver, Adeline, Adang, Laura A.

المصدر: Molecular genetics and metabolism. 123(3)

مصطلحات موضوعية: 0301 basic medicine, Male, Consensus, Multiple Sulfatase Deficiency Disease, Endocrinology, Diabetes and Metabolism, Consensu, Outcomes, 030105 genetics & heredity, Diagnostic evaluation, Care, Bioinformatics, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Rare Diseases, Genetic, Multiple sulfatase deficiency, Genetics, Medicine, Humans, Chondrodysplasia punctata, Oxidoreductases Acting on Sulfur Group Donors, Clinical phenotype, Molecular Biology, Outcome, business.industry, Ichthyosis, Sulfatase, Prevention, Leukodystrophy, Brain, Mucopolysaccharidoses, medicine.disease, 3. Good health, Metachromatic leukodystrophy, Mucopolysaccharidose, Child, Preschool, Mutation, Female, Therapy, Sulfatases, business, Protein Processing, Post-Translational, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f96fc1c9b41283295cc10567a686079f
https://pubmed.ncbi.nlm.nih.gov/29397290