The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening

Abstract Newborn screening (NBS) for classical galactosaemia (CG) facilitates early diagnosis and treatment to prevent life‐threatening complications, but remains controversial, and screening protocols vary widely between programmes. False‐negatives associated with first‐tier screening of total gala...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Isaac Bernhardt, Emma Glamuzina, Bryony Ryder, Detlef Knoll, Natasha Heather, Mark De Hora, Dianne Webster, Callum Wilson
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2023-03-01
Edice:	JIMD Reports
On-line přístup:	https://doi.org/10.1002/jmd2.12339
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!