title: Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.
abstract: A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.
authors.affiliation: Department of Neuropaediatrics, University Hospital of Sant Joan de Déu, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.forename: C
authors.initials: C
authors.lastname: Pavia
authors.forename: M A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: I
authors.initials: I
authors.lastname: Ferrer
authors.forename: T
authors.initials: T
authors.lastname: Temudo
authors.forename: A
authors.initials: A
authors.lastname: Chabas
authors.forename: H
authors.initials: H
authors.lastname: Stibler
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D010641:Phenotype; D011627:Puberty / Q000502:physiology*