Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Author:

Pekkinen MinnaORCID,Terhal Paulien A.,Botto Lorenzo D.ORCID,Henning Petra,Mäkitie Riikka E.,Roschger Paul,Jain Amrita,Kol MatthijsORCID,Kjellberg Matti A.,Paschalis Eleftherios P.,van Gassen Koen,Murray Mary,Bayrak-Toydemir PinarORCID,Magnusson Maria K.ORCID,Jans Judith,Kausar Mehran,Carey John C.,Somerharju Pentti,Lerner Ulf H.,Olkkonen Vesa M.,Klaushofer Klaus,Holthuis Joost C.M.ORCID,Mäkitie OutiORCID

Funder

Academy of Finland

Sigrid Jusélius Foundation

Governmental Subsidy for Clinical Research

Foundation for Pediatric Research

Folkhälsan Research Foundation

Swedish Research Council

Swedish Childhood Cancer Foundation

The Novo Nordisk Foundation

Deutsche Forschungsgemeinschaft

AUVA

WGKK

Sahlgrenska University Hospital

IngaBritt and Arne Lundberg Foundation

The Royal 80 Year Fund of King Gustav V

Publisher

American Society for Clinical Investigation

Subject

General Medicine

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3. Regulation of cellular and systemic sphingolipid homeostasis;Nature Reviews Molecular Cell Biology;2024-06-18

4. Human genetic defects of sphingolipid synthesis;Journal of Inherited Metabolic Disease;2024-05-05

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