Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

Item

http://www.wikidata.org/entity/Q45124592

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

@zh

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh-hant

name

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

@en

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

@nl

type

Item

label

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

@en

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

@nl

prefLabel

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

@en

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

@nl

P1476

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness

@en

P2093

Abdelhadi M Habeb

http://www.w3.org/2001/XMLSchema#string

Adrian J L Clark

http://www.w3.org/2001/XMLSchema#string

Ali Al-Muhamadi

http://www.w3.org/2001/XMLSchema#string

Claire R Hughes

http://www.w3.org/2001/XMLSchema#string

Rida Al-Arabi

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.

Familial glucocorticoid deficiency: New genes and mechanisms.

The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.

P2888

s00431-013-2044-1

P304

1407-1410

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/S00431-013-2044-1

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

172

http://www.w3.org/2001/XMLSchema#string

P50

Lou Metherell

P577

2013-05-26T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1001090335

http://www.w3.org/2001/XMLSchema#string

P698

23708259

http://www.w3.org/2001/XMLSchema#string