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1.
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
J Inherit Metab Dis
; 39(2): 231-41, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26310964
2.
Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life.
J Inherit Metab Dis
; 37(2): 189-95, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23949009
3.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
J Inherit Metab Dis
; 37(1): 21-30, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23780642
4.
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.
Orphanet J Rare Dis
; 10: 163, 2015 Dec 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-26693825
5.
Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.
Mol Cell Pediatr
; 4(Suppl 1): 5, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28516419
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