Detalhe da pesquisa
1.
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Mol Genet Metab
; 131(4): 380-389, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33234470
2.
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Am J Med Genet A
; 182(6): 1477-1482, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32198969
3.
Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review.
Minerva Pediatr
; 71(2): 181-195, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472877
4.
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients.
J Inherit Metab Dis
; 40(6): 793-799, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28836033
5.
Work activity and phenylalanine levels in a population of young adults with classic PKU.
Med Lav
; 108(2): 118-122, 2017 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28446738
6.
Randomized controlled trial of a protein substitute with prolonged release on the protein status of children with phenylketonuria.
J Am Coll Nutr
; 33(2): 103-10, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24724767
7.
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis.
Mol Genet Metab Rep
; 36: 100998, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600232
8.
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Endocrinol Diabetes Metab
; 6(2): e396, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537053
9.
PMM2-CDG and nephrotic syndrome: A case report.
Clin Case Rep
; 10(2): e05347, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35154715
10.
L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.
Ital J Pediatr
; 48(1): 48, 2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346323
11.
Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.
Nutrients
; 14(19)2022 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36235790
12.
Caregivers' Intention to Vaccinate Their Children Under 12 Years of Age Against COVID-19: A Cross-Sectional Multi-Center Study in Milan, Italy.
Front Pediatr
; 10: 834363, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35712618
13.
A specific prebiotic mixture added to starting infant formula has long-lasting bifidogenic effects.
J Nutr
; 141(7): 1335-9, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21613452
14.
Psychological wellbeing in parents of children with phenylketonuria and association with treatment adherence.
Minerva Pediatr (Torino)
; 73(4): 330-339, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29651832
15.
Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia.
Healthcare (Basel)
; 9(11)2021 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828453
16.
PKU and COVID19: How the pandemic changed metabolic control.
Mol Genet Metab Rep
; 27: 100759, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33907667
17.
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
J Clin Med
; 8(5)2019 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130681
18.
Cerumen: A fundamental but neglected problem by pediatricians.
Int J Pediatr Otorhinolaryngol
; 87: 55-60, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27368443
19.
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Nat Genet
; 46(5): 503-509, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24686847
20.
Preliminary data on immunogenicity, safety and tolerability of trivalent inactivated influenza vaccine in children with inborn errors of metabolism at risk of decompensation.
Vaccine
; 31(45): 5149-51, 2013 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24012567