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1.
Availability of psychological resources for parents receiving communication of positivity at newborn screening for metabolic diseases in Italy.
Eur J Pediatr
; 183(2): 965-969, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37975942
2.
The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.
J Inherit Metab Dis
; 46(5): 906-915, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37395264
3.
Neurologic outcome following liver transplantation for methylmalonic aciduria.
J Inherit Metab Dis
; 46(3): 450-465, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36861405
4.
Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.
Horm Res Paediatr
; : 1-13, 2024 May 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38806014
5.
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Orphanet J Rare Dis
; 17(1): 443, 2022 12 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36544165
6.
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.
Orphanet J Rare Dis
; 16(1): 424, 2021 10 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34635134
7.
Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Orphanet J Rare Dis
; 18(1): 44, 2023 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36869340
8.
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.
Orphanet J Rare Dis
; 10: 120, 2015 Sep 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-26399329
9.
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Orphanet J Rare Dis
; 10: 22, 2015 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-25888393
10.
Cognitive findings and behavior in children and adolescents with phenylketonuria.
J Dev Behav Pediatr
; 34(6): 392-8, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23782895
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