Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease

Adang, Laura A.; Schlotawa, Lars; Groeschel, Samuel; Kehrer, Christiane; Harzer, Klaus; Staretz-Chacham, Orna; Silva, Thiago Oliveira; Schwartz, Ida Vanessa D.; Gaertner, Jutta; De Castro, Mauricio; Costin, Carrie; Montgomery, Esperanza Font; Dierks, Thomas; Radhakrishnan, Karthikeyan; Ahrens-Nicklas, Rebecca C.

dc.contributor.author	Gröschel, Samuel
dc.contributor.author	Kehrer, Christiane
dc.contributor.author	Harzer, Klaus
dc.date.accessioned	2020-12-14T15:45:40Z
dc.date.available	2020-12-14T15:45:40Z
dc.date.issued	2020
dc.identifier.issn	1573-2665
dc.identifier.uri	http://hdl.handle.net/10900/110634
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/jimd.12298	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200929220116_00204
utue.publikation.seiten	1298-1309	de_DE
utue.personen.roh	Adang, Laura A.
utue.personen.roh	Schlotawa, Lars
utue.personen.roh	Groeschel, Samuel
utue.personen.roh	Kehrer, Christiane
utue.personen.roh	Harzer, Klaus
utue.personen.roh	Staretz-Chacham, Orna
utue.personen.roh	Silva, Thiago Oliveira
utue.personen.roh	Schwartz, Ida Vanessa D.
utue.personen.roh	Gaertner, Jutta
utue.personen.roh	De Castro, Mauricio
utue.personen.roh	Costin, Carrie
utue.personen.roh	Montgomery, Esperanza Font
utue.personen.roh	Dierks, Thomas
utue.personen.roh	Radhakrishnan, Karthikeyan
utue.personen.roh	Ahrens-Nicklas, Rebecca C.
dcterms.isPartOf.ZSTitelID	Journal of Inherited Metabolic Disease	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	43	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE