title: LPIN1deficiency: A novel mutation associated with different phenotypes in the same family.
authors.affiliation: Newborn Screening, Metabolism & Genetics Unit, Genetics Department, National Institute of Health, INSA, Porto, Portugal.
authors.forename: D
authors.initials: D
authors.lastname: Nunes
authors.affiliation: Newborn Screening, Metabolism & Genetics Unit, Genetics Department, National Institute of Health, INSA, Porto, Portugal.
authors.forename: C
authors.initials: C
authors.lastname: Nogueira
authors.affiliation: Newborn Screening, Metabolism & Genetics Unit, Genetics Department, National Institute of Health, INSA, Porto, Portugal.
authors.forename: A
authors.initials: A
authors.lastname: Lopes
authors.affiliation: Metabolic Unit, CHSJ, Porto, Portugal.
authors.forename: P
authors.initials: P
authors.lastname: Chaves
authors.affiliation: Metabolic Unit, CHSJ, Porto, Portugal.
authors.forename: E
authors.initials: E
authors.lastname: Rodrigues
authors.affiliation: Metabolic Unit, CHSJ, Porto, Portugal.
authors.forename: T
authors.initials: T
authors.lastname: Cardoso
authors.affiliation: Metabolic Unit, CHSJ, Porto, Portugal.
authors.forename: E
authors.initials: E
authors.lastname: Leão Teles
authors.affiliation: Newborn Screening, Metabolism & Genetics Unit, Genetics Department, National Institute of Health, INSA, Porto, Portugal.
authors.forename: L
authors.initials: L
authors.lastname: Vilarinho