Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.

Güzel Nur, Banu; Çelmeli, Gamze; Manguoglu, Esra; Soyucen, Erdogan; Bircan, Iffet; Mihçi, Ercan

Güzel Nur, Banu; Çelmeli, Gamze; Manguoglu, Esra; Soyucen, Erdogan; Bircan, Iffet; Mihçi, Ercan.

Affiliation

Güzel Nur B; Akdeniz University Faculty of Medicine, Department of Pediatric Genetics, Antalya, Turkey, Phone: +90-242-249-6535 E-mail: banuguzel@hotmail.com.

J Clin Res Pediatr Endocrinol ; 8(3): 360-4, 2016 Sep 01.

Article in En | MEDLINE | ID: mdl-27086862

Subject(s)

Alkaline Phosphatase/genetics; Hypophosphatasia/genetics; Mutation; Pyridoxine/therapeutic use; Seizures/prevention & control; Calcitonin/therapeutic use; Diuretics/therapeutic use; Female; Furosemide/therapeutic use; Homozygote; Humans; Hypophosphatasia/complications; Hypophosphatasia/drug therapy; Infant, Newborn; Seizures/complications; Sodium Chloride/therapeutic use; Treatment Outcome; Vitamin B Complex/therapeutic use

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Full text: 1 Database: MEDLINE Main subject: Pyridoxine / Seizures / Alkaline Phosphatase / Hypophosphatasia / Mutation Type of study: Screening_studies Limits: Female / Humans / Newborn Language: En Journal: J Clin Res Pediatr Endocrinol Year: 2016 Type: Article

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