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Titel:

Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.

Dokumenttyp:
Clinical Trial; Journal Article
Autor(en):
Warncke, Katharina; Falco, Franziska; Rabl, Wolfgang; Engelsberger, Ilse; Saier, Julia; Flores-Rodriguez, David; Burdach, Stefan; Bonfig, Walter
Abstract:
Congenital hyperinsulinism (CHI) is a rare disease with an estimated incidence of 1:40,000 live births. Here, we characterize 11 patients treated at Munich Children's Hospital Schwabing.We analyzed data on birth, treatment and laboratory results including genetic testing and evaluated the long-term course with a follow-up visit.All patients had severe, diazoxide-(DZX)-resistant hypoglycemia, beginning immediately after birth. Two patients were treated by medical therapy, eight underwent subtotal...     »
Zeitschriftentitel:
J Pediatr Endocrinol Metab
Jahr:
2016
Band / Volume:
29
Heft / Issue:
10
Seitenangaben Beitrag:
1187-1194
Sprache:
eng
Volltext / DOI:
doi:10.1515/jpem-2016-0103
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/27682711
Print-ISSN:
0334-018X
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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