ライフサイエンスコーパス: congenital hyperinsulinism

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1 They represent a novel cause of focal congenital hyperinsulinism.

2 ssense Kir6.2 mutation, G156R, identified in congenital hyperinsulinism.

3 sible for the most common and severe form of congenital hyperinsulinism.

4 sults in loss of channel function as seen in congenital hyperinsulinism.

5 subunit of the channel, is a major cause of congenital hyperinsulinism.

6 ium channel Kir6.2, respectively, results in congenital hyperinsulinism.

7 A116P and V187D, identified in patients with congenital hyperinsulinism.

8 utant KATP channels previously identified in congenital hyperinsulinism.

9 surface lead to loss of channel function and congenital hyperinsulinism.

10 hanism for loss of KATP channel function and congenital hyperinsulinism and support the importance of

11 Thus, sulfonylureas may be used to treat congenital hyperinsulinism caused by certain K(ATP) chan

12 Congenital hyperinsulinism causes persistent hypoglycemi

13 A new form of congenital hyperinsulinism characterized by hypoglycemia

14 Congenital hyperinsulinism (CHI) is a disease characteri

15 Congenital hyperinsulinism (CHI) is a disorder of unregu

16 Congenital hyperinsulinism (CHI) is a multifaceted disea

17 Congenital Hyperinsulinism (CHI) is a rare heterogeneous

18 Congenital hyperinsulinism (CHI) is most commonly caused

19 Congenital hyperinsulinism (CHI) may be due to diffuse o

20 ory subunit, sulfonylurea receptor 1, causes congenital hyperinsulinism (CHI), a neonatal disease cha

21 and in humans lead to the clinical condition congenital hyperinsulinism (CHI).

22 f glutamate dehydrogenase (GDH) in a form of congenital hyperinsulinism (GDH-HI) is providing a model

23 icacy of this form of linkage-mapping, using congenital hyperinsulinism (HI), an autosomal recessive

24 ubunits underlie human neonatal diabetes and congenital hyperinsulinism (HI), respectively.

25 are responsible for the most common form of congenital hyperinsulinism in children.

26 Congenital hyperinsulinism in infancy (CHI) is character

27 Diffuse congenital hyperinsulinism in infancy (CHI-D) arises fro

28 Congenital hyperinsulinism is a condition of dysregulate

29 Congenital hyperinsulinism is a disorder of pancreatic b

30 KATP channels cause the most severe form of congenital hyperinsulinism (KATPHI).

31 Congenital hyperinsulinism of infancy (CHI) can be cause

32 evere recessively inherited diffuse forms of congenital hyperinsulinism or, when associated with loss

33 Infants with congenital hyperinsulinism owing to inactivating mutatio

34 annel expression and function in a subset of congenital hyperinsulinism patients.

35 he loss of channel function phenotype in the congenital hyperinsulinism patients.

36 hannels with reduced activity are a cause of congenital hyperinsulinism, whereas hyperactive channels

37 annel function are typically associated with congenital hyperinsulinism, whereas those that increase

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