Search Results - "Champagne, Marjolaine"

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency by Champagne, Marjolaine, Horvath, Gabriella A., Perreault, Sébastien, Gauthier, Julie, Hyland, Keith, Soucy, Jean‐François, Mitchell, Grant A.

“…Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. Two presentations are described. Type A,…”
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A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia by Champagne, Marjolaine, Olivier, Patricia, Glavas, Peter, Cantin, Marie-Andrée, Rauch, Frank, Alos, Nathalie, Campeau, Philippe M.

“…Multiple epiphyseal dysplasia (MED) is a genetically and clinically heterogeneous disease with both dominant and recessive inheritance. Eight different genes…”
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