Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders

NKX2-1-related disorder (NKX2-1-RD) is a rare disease characterized by a triad of primary hypothyroidism, neonatal respiratory distress, and neurological features, including chorea. This study aimed to identify discrepancies in the management of NKX2-1-RD among European Union (EU) specialists. The E...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	European journal of paediatric neurology 2024-07, Vol.51, p.110-117
Hauptverfasser:	Nou-Fontanet, Laia, Nguyen, Quang Tuan Rémy, Bachoud-Levi, Anne-Catherine, Reinhard, Carola, Ortigoza-Escobar, Juan Darío
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Athetosis - diagnosis Child Chorea Chorea - diagnosis Chorea - drug therapy Chorea - genetics Chorea - therapy Congenital Hypothyroidism - diagnosis Congenital Hypothyroidism - drug therapy Congenital Hypothyroidism - therapy Cross-Sectional Studies Europe European Union Humans Male NKX2-1 Rare Diseases - diagnosis Rare Diseases - therapy Respiratory Distress Syndrome, Newborn - diagnosis Respiratory Distress Syndrome, Newborn - therapy Surveys and Questionnaires Thyroid Nuclear Factor 1 - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!