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Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.252-21, Article 252

2020

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Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation in Saudi Arabia

Saudi medical journal, 2016-11, Vol.37 (11), p.1258-1260

2016

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Sleep in chronic respiratory disease: COPD and hypoventilation disorders

European respiratory review, 2019-09, Vol.28 (153), p.190064

2019

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ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis

The journal of clinical endocrinology and metabolism, 2020-07, Vol.105 (7), p.2119-2131

2020

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Congenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation

Clinics in chest medicine, 2024-09, Vol.45 (3), p.663-673

2024

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Hypercapnia and Hypoventilation in a Term Newborn

Neoreviews (Elk Grove Village, Ill.), 2024-09, Vol.25 (9), p.e586-e588

2024

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A golfer with hypoventilation

Journal of clinical sleep medicine, 2024-10, Vol.20 (10), p.1717-1718

2024

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Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome

Journal of clinical sleep medicine, 2023-09, Vol.19 (9), p.1697-1700

2023

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Dietary Sodium Restriction Increases the Risk of Misinterpreting Mild Cases of Primary Aldosteronism

The journal of clinical endocrinology and metabolism, 2016-11, Vol.101 (11), p.3989-3996

2016

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An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management

American journal of respiratory and critical care medicine, 2010-03, Vol.181 (6), p.626-644

2010

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Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center

European journal of pediatrics, 2024-08, Vol.183 (8), p.3479-3487

2024

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Prevalence of sleep apnoea and capnographic detection of nocturnal hypoventilation in amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2018-04, Vol.89 (4), p.418-424

2018

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Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype

Pediatric research, 2024-06, Vol.95 (7), p.1843-1850

2024

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Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox

Pediatric pulmonology, 2022-09, Vol.57 (9), p.2040-2047

2022

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Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome

American journal of respiratory and critical care medicine, 2021-11, Vol.204 (10), p.1200-1210

2021

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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding

Clinical autonomic research, 2023-06, Vol.33 (3), p.251-268

2023

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An unusual cause of diaphragm pacer failure in congenital central hypoventilation syndrome

Journal of clinical sleep medicine, 2022-03, Vol.18 (3), p.949-952

2022

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Revolutionizing congenital central hypoventilation syndrome screening: the potential of machine learning approaches

Pediatric research, 2024-06, Vol.95 (7), p.1688-1689

2024

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Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?

Journal of clinical sleep medicine, 2023-06, Vol.19 (6), p.1161-1164

2023

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Assessment of nocturnal alveolar hypoventilation and obstructive sleep apnea in otherwise healthy children

Pediatric pulmonology, 2024-06, Vol.59 (6), p.1811-1813

2024

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Early diagnosis of congenital central hypoventilation syndrome

Pediatrics international, 2024-01, Vol.66 (1), p.e15803

2024

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Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders

Pediatric pulmonology, 2022-06, Vol.57 (6), p.1497-1504

2022

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Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

Neuromuscular disorders : NMD, 2023-01, Vol.33 (1), p.50-57

2023

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An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome

European journal of ophthalmology, 2024-05, Vol.34 (3), p.NP1-NP4

2024

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Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I

Neuromuscular disorders : NMD, 2019-04, Vol.29 (4), p.302-309

2019

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Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation in Saudi Arabia

Sleep in chronic respiratory disease: COPD and hypoventilation disorders

ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis

Congenital Central Hypoventilation Syndrome and Disorders of Control of Ventilation

Hypercapnia and Hypoventilation in a Term Newborn

A golfer with hypoventilation

Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome

Dietary Sodium Restriction Increases the Risk of Misinterpreting Mild Cases of Primary Aldosteronism

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center

Prevalence of sleep apnoea and capnographic detection of nocturnal hypoventilation in amyotrophic lateral sclerosis

Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype

Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox

Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding

An unusual cause of diaphragm pacer failure in congenital central hypoventilation syndrome

Revolutionizing congenital central hypoventilation syndrome screening: the potential of machine learning approaches

Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?

Assessment of nocturnal alveolar hypoventilation and obstructive sleep apnea in otherwise healthy children

Early diagnosis of congenital central hypoventilation syndrome

Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders

Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review

An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome

Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I

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