TY  - JOUR
AU  - Teresa, Maria Angeles Garcia
AU  - Abal, Raquel Porto
AU  - Torres, Silvia Rodriguez
AU  - Urabayen, Diego Garcia
AU  - Martinez, Silvia Garcia
AU  - Trang, Ha
AU  - Barros, Angel Campos
AU  - Grupo Espanol de Trabajo del SHCC
PY  - 2017
DO  - 10.1016/j.anpedi.2016.05.008
SN  - 1695-4033
UR  - https://hdl.handle.net/10668/24988
T2  - Anales de pediatria
AB  - Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.Aim: To determine the...
LA  - es
PB  - Ediciones doyma s a
KW  - Congenital central hypoventilation syndrome
KW  - Registry
KW  - Health care
KW  - Rare disease
KW  - PHOX2B
KW  - Onset central hypoventilation
KW  - Positive-pressure ventilation
KW  - Hypothalamic dysfunction
KW  - Automatic-control
KW  - Ondines-curse
KW  - Phox2b gene
KW  - Children
KW  - Mutations
KW  - Phenotype
KW  - Failure
TI  - Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data
TY  - research article
VL  - 86
ER  -