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.

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

Autor(en):

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.

Tübinger Autor(en):

Gröschel, Samuel
Kehrer, Christiane
Harzer, Klaus

Erschienen in:

Journal of Inherited Metabolic Disease (2020), Bd. 43, H. 6, S. 1298-1309

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/jimd.12298

ISSN:

1573-2665