Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0020505 (
hyperphagia
)
6,116
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Neonatal diabetes mellitus
(DM) is a rare condition that can be either transient or permanent. In this case report, we describe a novel mutation (p.L30Q) in the INS gene resulting in permanent DM in a four-month-old female who presented with
polyphagia
, polyuria, irritability, and hyperglycemia with glucosuria and ketonuria without acidosis.
...
PMID:Permanent neonatal diabetes caused by a novel mutation in the INS gene. 2310 9
