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1.
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
J Inherit Metab Dis
; 37(6): 889-98, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25022222
2.
A genetic study of Wilson's disease in the United Kingdom.
Brain
; 136(Pt 5): 1476-87, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23518715
3.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Genet Med
; 14(7): 648-55, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22766634
4.
Putting a value on the avoidance of false positive results when screening for inherited metabolic disease in the newborn.
J Inherit Metab Dis
; 35(1): 169-76, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21617925
5.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Genet Med
; 13(3): 230-54, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21325949
6.
Qualitative exploration of health professionals' experiences of communicating positive newborn bloodspot screening results for nine conditions in England.
BMJ Open
; 10(10): e037081, 2020 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33004391
7.
Rethinking Strategies for Positive Newborn Screening Result (NBS+) Delivery (ReSPoND): a process evaluation of co-designing interventions to minimise impact on parental emotional well-being and stress.
Pilot Feasibility Stud
; 5: 108, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31508239
8.
Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia.
Ann Clin Biochem
; 47(Pt 6): 567-9, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20947531
9.
A randomised double-blind placebo-controlled trial of folic acid supplementation of cholinesterase inhibitors in Alzheimer's disease.
Int J Geriatr Psychiatry
; 23(2): 155-60, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17600848
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