Detalhe da pesquisa
1.
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
2.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Hum Mutat
; 43(1): 67-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747546
3.
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
Mol Genet Metab
; 137(4): 359-381, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427457
4.
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
5.
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
Int J Mol Sci
; 21(16)2020 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32823520
6.
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
Mol Genet Metab
; 127(2): 132-137, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104889
7.
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Mol Genet Metab
; 127(1): 12-22, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30952622
8.
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
Mol Genet Metab
; 122(1-2): 135-142, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28818555
9.
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
10.
Psychiatric disorders in adolescent and young adult patients with phenylketonuria.
Mol Genet Metab
; 117(1): 12-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26655635
11.
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].
Mol Genet Metab
; 134(1-2): 216, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244047
12.
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study.
Mol Genet Metab
; 115(2-3): 84-90, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25952249
13.
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Mol Genet Metab
; 115(4): 157-60, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123188
14.
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].
Mol Genet Metab
; 125(4): 359, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29548777
15.
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Genes (Basel)
; 14(2)2023 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833190
16.
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
J Cyst Fibros
; 22(3): 484-495, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36372700
17.
In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism.
BMC Neurosci
; 13: 41, 2012 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22536786
18.
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.
Parkinsonism Relat Disord
; 103: 105-111, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36096017
19.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Int J Neonatal Screen
; 8(3)2022 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997437
20.
Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis.
Pediatr Pulmonol
; 56(12): 3785-3791, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34549893