Congenital central hypoventilation syndrome mimicking mitochondrial disease.

about

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Item

http://www.wikidata.org/entity/Q54970278

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh

2018年學術文章

@zh-hant

name

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

@en

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

@nl

type

Item

label

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

@en

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

@nl

prefLabel

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

@en

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

@nl

P1476

Congenital central hypoventilation syndrome mimicking mitochondrial disease

@en

P2093

Maria Descartes

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

P2860

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Pediatric disorders with autonomic dysfunction: what role for PHOX2B?

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.

Central nervous system distribution of the transcription factor Phox2b in the adult rat.

Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.

Cor pulmonale due to congenital central hypoventilation syndrome presenting in adolescence.

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

P304

465-468

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

P31

scholarly article

case report

P356

10.1002/CCR3.1320

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

P433

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

P478

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

P50

K Rojnueangnit

P577

2018-01-19T00:00:00Z

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

P698

29531718

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

P921

congenital central hypoventilation syndrome

P932

5838278

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