title: Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment.
authors.affiliation: Department of Molecular Biology and Genetics, Haliç University, Istanbul, Turkey.
authors.forename: Necip Ozan
authors.initials: NO
authors.lastname: Tiryakioğlu
authors.affiliation: Department of Pediatric Gastroenterology, T.R. Ministry of Health Bakırköy Sadi Konuk Training and Research Hospital, Istanbul, Turkey.
authors.forename: Zerrin
authors.initials: Z
authors.lastname: Önal
authors.affiliation: Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Seha K
authors.initials: SK
authors.lastname: Saygili
authors.affiliation: Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey.
authors.forename: Hasan
authors.initials: H
authors.lastname: Önal
authors.affiliation: Department of Molecular Biology and Genetics, Haliç University, Istanbul, Turkey.
authors.forename: Nagehan
authors.identifier: http://orcid.org/0000-0001-5460-3569
authors.initials: N
authors.lastname: Ersoy Tunali
mesh_terms: D001483:Base Sequence; D003879:Dermatologic Agents / Q000627:therapeutic use; D004338:Drug Combinations; D006801:Humans; D006955:Hypernatremia / Q000188:drug therapy* / Q000209:etiology; D007057:Ichthyosis / Q000188:drug therapy*; D007231:Infant, Newborn; D007610:Kallikreins / Q000037:antagonists & inhibitors; D056770:Netherton Syndrome / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D009824:Ointments / Q000627:therapeutic use; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics; D017384:Sequence Deletion; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D017693:Sodium Bicarbonate / Q000627:therapeutic use*; D015034:Zinc Oxide / Q000627:therapeutic use*
chemical_list: D003879:Dermatologic Agents; D004338:Drug Combinations; D009824:Ointments; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D017693:Sodium Bicarbonate; D007610:Kallikreins; D015034:Zinc Oxide