A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period

• मुख्य लेखकों: Şükran Keskin Gözmen (लेखक), Kıymet Çelik (लेखक), Şebnem Çalkavur (लेखक), Erkin Serdaroğlu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Galenos Yayinevi, 2019-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome has many different identified mutations and it is rarely diagnosed during the neonatal period. Our patient is a two-week old female newborn who was admitted to our hos...