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View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life.
J Inherit Metab Dis. 2020 Nov;43(6):1143-1153. doi: 10.1002/jimd.12305. Epub 2020 Sep 24.
J Inherit Metab Dis. 2020.
PMID: 32845037
No abstract available.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Hong X, Kumar AB, Daiker J, Yi F, Sadilek M, De Mattia F, Fumagalli F, Calbi V, Damiano R, Della Bona M, la Marca G, Vanderver AL, Waldman AT, Adang L, Sherbini O, Woidill S, Suhr T, Kurtzberg J, Beltran-Quintero ML, Escolar M, Aiuti A, Finglas A, Olsen A, Gelb MH.
Hong X, et al. Among authors: finglas a.
Anal Chem. 2020 May 5;92(9):6341-6348. doi: 10.1021/acs.analchem.9b05274. Epub 2020 Apr 16.
Anal Chem. 2020.
PMID: 31922725
Free PMC article.
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Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review.
Schittkowski MP, Naxer S, Elabbasy M, Herholz L, Breitling V, Finglas A, Gärtner J, Schlotawa L.
Schittkowski MP, et al. Among authors: finglas a.
Children (Basel). 2023 Mar 21;10(3):595. doi: 10.3390/children10030595.
Children (Basel). 2023.
PMID: 36980153
Free PMC article.
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Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA.
Ahrens-Nicklas R, et al. Among authors: finglas a.
Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31.
Mol Genet Metab. 2018.
PMID: 29397290
Free PMC article.
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