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

المصدر: Children, Vol 10, Iss 3, p 595 (2023)

مصطلحات موضوعية: multiple sulfatase deficiency (MS), ophthalmology, optical coherence tomography (OCT), Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/10/3/595; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/37a4e7b9d78944429ab4ced7f6e2610d

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

المصدر: Molecular Genetics and Metabolism. 138:106995

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::54e466447164667b6b058d6986354766
https://doi.org/10.1016/j.ymgme.2022.106995

المؤلفون: Alan Finglas

المصدر: Journal of inherited metabolic diseaseREFERENCES. 43(6)

مصطلحات موضوعية: Multiple sulfatase deficiency, business.industry, Multiple Sulfatase Deficiency Disease, Research, Genetics, medicine, Quality of Life, Humans, Computational biology, medicine.disease, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4eb46a9d13098037858efc4acc90adb
https://pubmed.ncbi.nlm.nih.gov/32845037

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

المساهمون: Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Bona, Maria Della, 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, Gelb, Michael H

المصدر: Anal Chem

مصطلحات موضوعية: Arylsulfatase A, Multiple Sulfatase Deficiency Disease, 010402 general chemistry, Tandem mass spectrometry, 01 natural sciences, Article, Analytical Chemistry, Multiple sulfatase deficiency, Tandem Mass Spectrometry, medicine, Leukocytes, Humans, Cerebroside-Sulfatase, chemistry.chemical_classification, Newborn screening, Sulfoglycosphingolipids, biology, Molecular Structure, 010401 analytical chemistry, Leukodystrophy, Metachromatic, medicine.disease, Molecular biology, 0104 chemical sciences, Dried blood spot, Metachromatic leukodystrophy, Enzyme, chemistry, biology.protein, Dried Blood Spot Testing, Antibody, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f19bd69462c70a8a3b19c8909f9aaf
https://europepmc.org/articles/PMC7203001/

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

المصدر: Molecular Genetics and Metabolism. 126:S21-S22

مصطلحات موضوعية: Endocrinology, Multiple sulfatase deficiency, Endocrinology, Diabetes and Metabolism, Genetics, medicine, Physiology, Biology, medicine.disease, Molecular Biology, Biochemistry, Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6a3a051795f45208b7d50416ef1452c2
https://doi.org/10.1016/j.ymgme.2018.12.030

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

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

المصدر: Molecular Genetics and Metabolism. 123:S17

مصطلحات موضوعية: medicine.medical_specialty, Statement (logic), business.industry, Endocrinology, Diabetes and Metabolism, Guideline, medicine.disease, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Multiple sulfatase deficiency, 030225 pediatrics, Genetics, medicine, business, Intensive care medicine, Molecular Biology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c1c59d91dde4a235b1ac974402cabbf
https://doi.org/10.1016/j.ymgme.2017.12.017