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Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this case maple syrup urine disease (MSUD), adds more challenges t...

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Principais autores: Azza AL Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al-Hashmi, Fathiya Al Murshedi
Formato: Artigo
Idioma:Inglês
Publicado em: Pediatric Endocrinology and Diabetes Society 2023-09-01
Colecção:JCRPE
Assuntos:
hypoglycemia
congenital hyperinsulinemia
maple syrup urine disease
abcc8 mutation
bckdha mutation
Acesso em linha:https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04796&look4=
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