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

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...

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Main Authors: Şükran Keskin Gözmen (Author), Kıymet Çelik (Author), Şebnem Çalkavur (Author), Erkin Serdaroğlu (Author)
Format: Book
Published: Galenos Yayinevi, 2019-06-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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