Detalhe da pesquisa
1.
Management of phenylketonuria in European PKU centres remains heterogeneous.
Mol Genet Metab
; 141(1): 108120, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38159545
2.
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Mol Genet Metab
; 142(2): 108486, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38733639
3.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
J Inherit Metab Dis
; 2024 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433424
4.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
5.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Mol Genet Metab
; 140(1-2): 107654, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507255
6.
Long-term follow-up of a patient with neonatal form of Gaucher disease.
Am J Med Genet A
; 191(7): 1917-1922, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37009750
7.
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria.
Pharmacol Res
; 197: 106952, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804926
8.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
J Inherit Metab Dis
; 46(2): 220-231, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266255
9.
Seroprevalence of SARS-CoV-2 antibodies in Italy in newborn dried blood spots.
Clin Chem Lab Med
; 61(2): 311-315, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36282964
10.
Newborn screening of mucopolysaccharidosis type I.
Crit Rev Clin Lab Sci
; 59(4): 257-277, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037566
11.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
12.
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.
Mol Genet Metab
; 137(1-2): 213-222, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36155185
13.
The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion.
Mol Genet Metab
; 136(2): 94-100, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589496
14.
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Mol Genet Metab
; 133(1): 56-62, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33744095
15.
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.
J Inherit Metab Dis
; 44(1): 215-225, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32785952
16.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
17.
Nutrition in adult patients with selected lysosomal storage diseases.
Nutr Metab Cardiovasc Dis
; 31(3): 733-744, 2021 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33589321
18.
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
19.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Mol Genet Metab
; 131(1-2): 155-162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651154
20.
Oxygen and nitrite reduction by heme-deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency.
J Inherit Metab Dis
; 43(4): 748-757, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31950508