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

Abstract Context Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first de...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2020-07, Vol.105 (7), p.2119-2131
Hauptverfasser:	Harvengt, Julie, Gernay, Caroline, Mastouri, Meriem, Farhat, Nesrine, Lebrethon, Marie-Christine, Seghaye, Marie-Christine, Bours, Vincent
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Gland Neoplasms - complications Adrenal Gland Neoplasms - diagnosis Autonomic Nervous System Diseases - complications Autonomic Nervous System Diseases - diagnosis Autonomic neuropathies central hypoventilation Children Diagnosis Diseases dysautonomia Ganglioneuroblastoma - complications Ganglioneuroblastoma - diagnosis Ganglioneuroma - complications Ganglioneuroma - diagnosis Genetic disorders Genetics & genetic processes Génétique & processus génétiques Humans Hypothalamic Diseases - complications Hypothalamic Diseases - diagnosis Hypoventilation - complications Hypoventilation - diagnosis Life sciences neural crest tumor Obesity - complications Obesity - diagnosis Pediatric research precocious obesity Prognosis ROHHAD Sciences du vivant sinusal bradycardia Syndrome
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