Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Journal: Molecular genetics and metabolism

Publication date: 

Journal: Molecular genetics and metabolism

Publication Year: 

Authors & Co-authors:  Tokatly Latzer Bertoldi Blau DiBacco Elsea García-Cazorla Gibson Gropman Hanson Hoffman

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.

Journal: Molecular genetics and metabolism

Publication date: 2017

Journal: Molecular genetics and metabolism

Publication Year: 2017

Authors & Co-authors:  Mengel Eugen E Pineda Mercedes M Hendriksz Christian J CJ Walterfang Mark M Torres Juan V JV Kolb Stefan A SA