3-hydroxyacyl-coenzyme a dehydrogenase deficiency: Identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations

JIMD Reports

Volumn 2, Issue , 2012, Pages 71-77

  Popa, Florina Ion ^a   Perlini, Silvia ^b   Teofoli, Francesca ^a,b   Degani, Daniela ^b   Funghini, Silvia ^c   La Marca, Giancarlo ^c,d   Rinaldo, Piero ^e   Vincenzi, Monica ^a   Antoniazzi, Franco ^a,b   Boner, Attilio ^a,b   Camilot, Marta ^a,b  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY HOSPITAL OF VERONA   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e Mayo Clinic College of Medicine   (United States)

Author keywords

Dehydrogenase deficiency; Glucose infusion rate; Homozygous deletion; KATP channel; Urinary organic acid

Indexed keywords

EID: 84930465469     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_50     Document Type: Chapter

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